Personal assessment including familial risk analysis for personalized disease prevention plan

ABSTRACT

Family health history information can be used to assess familial risk for common diseases and determine early detection and prevention medical strategies. Assessed familial risk of disease can then be used to determine recommendations for disease prevention and screening that are targeted to familial risk. Other factors can be included to generate personalized disease prevention recommendations. For example, personal health history information, personal health behavior information, or both can be collected and assessed to generate personalized disease prevention recommendations based on the information collected. Recommendations for disease prevention and screening based at least on familial risk can be used to provide a personalized disease prevention plan that encourages a person to make behavior changes that will reduce the risk of disease and utilize preventive health services.

CROSS-REFERENCE TO RELATED APPLICATIONS

This application is a U.S. national stage application of InternationalApplication No. PCT/US2006/003968, filed Feb. 2, 2006, which waspublished in English under PCT Article 21(2), which in turn claims thebenefit of U.S. Provisional Application No. 60/650,076 to Scheuner etal., filed Feb. 3, 2005, entitled, “FAMILIAL RISK ANALYSIS FORDETERMINING A DISEASE PREVENTION PLAN,” all of which are herebyincorporated herein by reference.

FIELD

The field relates to preventive medicine and risk analysis of disease.

BACKGROUND

Determining risk factors for disease can be helpful for assessing anindividual's overall risk for a disease and in creating a plan to modifyan individual's risk of developing a disease. Medical providers areunder increasing pressure from governments, medical specialtyorganizations, managed care, and patients to practice preventivemedicine. Similarly, health organizations and insurance companies arebeginning to recognize that risk analysis of disease and preventivemedicine can be a very cost effective strategy for providing care.Medical screening and prevention guidelines for many chronic disordershave been developed by governments and medical organizations tofacilitate risk analysis of disease and preventive medicine practice.However, such guidelines can be slow to be adopted, sometimes poorlyunderstood, counter to historical practice, and can be perceived ascumbersome, difficult to use, not readily accessible or confusing byboth medical providers and patients. Similarly, the guidelines do notincorporate comprehensive personal health behaviors or family healthhistory information to determine a patient-specific or personalized riskof disease and disease prevention plan. Accordingly, there remains aneed to better assess disease risk and communicate risk to patients.

SUMMARY

Family health history information can be used to assess familial riskfor common diseases of adulthood and determine early detection andprevention medical strategies. Along with familial risk, other factorscan be included to generate personalized disease preventionrecommendations. For example, personal health history information,personal health behavior information (e.g., information abouthealth-related personal practices, information about whether the subjecthas had one or more screening tests performed, or both), or both can becollected and assessed to generate personalized disease preventionrecommendations based on the information collected. Such recommendationscan be based on risk scenarios. Combining and personalizing suchinformation can encourage preventive health care.

In addition, information can be collected about the disease history of aperson and the person's first and second degree relatives (e.g., mother,father, children, siblings, grandparents, aunts and uncles) and thenanalyzed to determine familial risk for developing common chronicdiseases (e.g., coronary heart disease, stroke, type 2 diabetes, andcolorectal, breast, and ovarian cancer). Assessed familial risk ofdisease can then be used to determine recommendations for diseaseprevention and screening that are targeted to familial risk.

Recommendations for disease prevention and screening based on familialrisk (e.g., combined with personal health behavior information) can beused to provide a disease prevention plan that encourages a person tomake behavior changes that reduce the risk of disease and utilizepreventive health services.

The techniques described herein can be applied to any number of diseaseswhere determining familial risk of disease and a disease prevention planbased on family history, as well as personal characteristics, healthhistory and behaviors are desired.

Additional features and advantages of the technologies described hereinwill be made apparent from the following detailed description ofillustrated embodiments, which proceeds with reference to theaccompanying drawings.

BRIEF DESCRIPTION OF THE DRAWINGS

FIG. 1A is a block diagram of an exemplary system for determining adisease prevention plan for a subject based on familial risk.

FIG. 1B is a flowchart showing an exemplary method for determiningfamilial risk of disease for a subject.

FIG. 2A is a block diagram of an exemplary system for providingpersonalized disease prevention recommendations for a subject.

FIG. 2B is a flowchart showing an exemplary method of providingpersonalized disease prevention recommendations for a subject.

FIG. 3 is a flowchart showing an exemplary method for determiningfamilial risk of one or more diseases of interest for a subject.

FIG. 4 is a flowchart showing an exemplary method for determining asubject's familial risk of a disease of interest based on first andsecond degree relative family health history.

FIG. 5 is a flowchart showing an exemplary computer-implemented methodfor determining familial risk of one or more diseases of interest.

FIG. 6 is a block diagram showing another exemplary system fordetermining a disease prevention plan for a subject based on familialrisk.

FIG. 7 is a flowchart showing yet another exemplary method fordetermining familial risk of disease for a subject.

FIG. 8 illustrates an exemplary familial risk matrix for determiningfamilial risk of disease based on family health history.

FIGS. 9, 10, and 11 are exemplary familial risk matrices for determiningfamilial risk of breast cancer.

FIGS. 12, 13, 14, 15, 16, and 17 are exemplary familial risk matricesfor determining familial risk of ovarian cancer.

FIGS. 18, 19, and 20 are exemplary familial risk matrices fordetermining familial risk of colon cancer.

FIGS. 21, 22, 23, 24, 25, and 26 are exemplary familial risk matricesfor determining familial risk of coronary heart disease.

FIGS. 27, 28, 29, 30, 31, and 32 are exemplary familial risk matricesfor determining familial risk of stroke.

FIGS. 33, 34, and 35 are exemplary familial risk matrices fordetermining familial risk of type 2 diabetes.

FIG. 36 is a block diagram showing an exemplary system for determining adisease prevention plan.

FIGS. 37-58 are screen shots from an exemplary implementation of acomputer-implemented method for both determining the behavioral andfamilial risk of one or more diseases of interest in a subject anddetermining a disease prevention plan for a subject.

FIG. 59 is an exemplary computer system that can be implemented with thedescribed technologies.

DETAILED DESCRIPTION Overview of Technologies

The technologies described herein can be used in any of a variety ofscenarios in which determination of familial risk of one or morediseases of interest and/or determination of a disease prevention planbased on familial risk of disease is useful. Personal behaviors can beincluded in the assessment, resulting in a determination of personalrisk.

A disease prevention plan includes any general or specific preventionrecommendations for reducing the risk of developing one or more diseasesof interest. For example, recommendations can include screening forearly detection of a disease of interest and/or screening for indicatorsof additional risk (e.g., specialized tests, genetic evaluations, andgenetic testing). The plan can include recommendations for continuationor modification of behavior (e.g., increase consumption of fruits andvegetables).

A disease of interest includes any disease for which familial risk isassessed for a subject. In practice, diseases of interest include commondiseases that result from complex interactions of multiple genes withmultiple behavioral environmental factors. For example, heart disease(e.g., coronary heart disease), stroke, diabetes, colorectal cancer,breast cancer, and ovarian cancer can be diseases of interest.

An indicator disease includes any disease associated with indicating orotherwise correlating with an increased risk of developing a disease ofinterest. For example, ovarian cancer can be an indicator disease forbreast cancer. In some cases, a disease can be an indicator disease foritself.

A first degree relative includes blood relatives, such as parents,siblings, or children. First degree relatives share one half of theirgenes in common.

A second degree relative includes aunts, uncles, nieces, nephews, andgrandparents. Second degree relatives share one quarter of their genesin common.

Family health history information includes disease history of asubject's biological relatives. For example, family health historyinformation can include disease history of first and second degreerelatives, as well as disease history of more distant relatives. Diseasehistory, for example, can include the number of first and second degreerelatives, whether a relative has a disease of interest or indicatordisease, gender of affected relatives, lineage of affected relatives(e.g., maternal or paternal side of the family), and the age of therelative at time of diagnosis of disease of interest or indicatordisease.

Personal health history information includes name, date of birth,gender, age, race/ethnicity, height, weight, whether the subjectcurrently has any disease of interest or indicator disease, personalhealth behavior information, or any combination thereof.

Personal health behavior information includes information related tohealth-related personal practices. Such practices can include smoking orother tobacco use, body mass index (BMI), level of physical activity(e.g., exercise), diet (e.g., daily servings of fruits and vegetables),alcohol use, aspirin use, and the like. Personal health behaviorinformation can also include whether the subject has had one or morescreening tests performed. Information about any one or more of thesecan be collected from the subject.

Familial risk (e.g., of disease) includes a likelihood of developing adisease (e.g., a disease of interest) based on family history. In any ofthe examples herein, a metric of familial risk of disease can bedetermined and expressed quantitatively. In any of the examples herein,a metric of familial risk of disease can be determined and expressedqualitatively (e.g., as a risk assessment category out of three or morecategories). For example, familial risk of a disease can be categorizedas high (e.g., strong), moderate, or low (e.g., weak) based at least onthe number of first and second degree relatives having an indicatordisease, the relatives' age of onset of the indicator disease, and thelike. Alternatively, another measure can be presented (e.g., a numericalrating, a percentage rating, or the like).

Screening tests include any test that screens for disease or riskfactors associated with disease. For example, screening tests caninclude clinical breast exams, mammograms, fecal occult blood tests,sigmoidoscopy, colonoscopy, blood cholesterol test, blood pressure test,blood sugar test, and the like.

A predetermined familial disease history scenario includes any familyhealth history information of any relative that may be associated withfamilial risk. For example, the scenario in which a first degreerelative has a disease of interest can be a predetermined familialdisease history scenario. Other scenarios include how many relatives ofa particular degree of relationship developed one or more indicatordiseases, as well as age of onset of disease (e.g., early or late onset)for such relatives.

Intersection of two predetermined familial disease history scenariosincludes situations in which a subject has two predetermined familialdisease history scenarios. When the information is referenced with adisease matrix, the two predetermined familial health history scenariosmeet in a risk-indicating familial history matrix cell, and the familialrisk assessment is assigned based on the intersection of the twoscenarios. A disease prevention plan can also be constructed based onthe matrix cell.

Familial risk clarifiers include qualifying statements which clarify orfurther explain the assignment of familial risk of disease. For example,familial risk clarifiers can be used in the explanation of familial riskto subjects, and as part of a disease prevention plan.

Adoption status can indicate whether the subject was adopted and can beincluded in any of the information, such as in the personal healthhistory information.

Example 1 Exemplary System for Determining a Disease Prevention Plan fora Subject Based on Familial Risk

FIG. 1A shows an exemplary system 100 for determining a diseaseprevention plan for a subject based on familial risk.

Health records 102 of a subject are obtained and input into a familialrisk assessor 104 to assess the familial risk of one or more diseasesand determine a disease prevention plan 106.

The familial risk assessor 104 can employ any combination oftechnologies, such as those, described herein, to determine the diseaseprevention plan 106 for the subject.

Methods for determining familial risk and a disease prevention plan fora subject are described in detail below.

Example 2 Exemplary Ages

In any of the examples herein, an age of onset of disease or age ofdiagnosis of disease can be an age range, particular age, age category(e.g., early, late, or the like), or other indication of age.

Although particular ages are shown in some examples (e.g., in ageranges), other age groupings can be used.

Example 3 Exemplary Method for Determining Familial Risk of Disease fora Subject

FIG. 1B shows an exemplary method 150 for determining familial risk ofdisease for a subject.

At 152, family health history is collected. For example, disease historyof a subject's first and second degree biological relatives includingthe number of first and second degree relatives, the lineage and genderof the first and second degree relatives, whether a relative has thedisease of interest or an indicator disease, and the age of the relativeat time of diagnosis of the disease of interest or indicator disease canbe collected.

At 154, familial risk of disease is determined by analyzing familyhealth history. For example, predetermined family disease historyscenarios can be analyzed.

At 156, results of the determination of familial risk of disease arepresented. For example, familial risk of disease for one or morediseases of interest can be presented as high (e.g., strong), moderate,or low (e.g., weak). Familial risk clarifiers can also be presented.

The method described in this or any of the other examples can be acomputer-implemented method performed via computer-executableinstructions in one or more computer-readable media. Any of the actionsshown can be performed by software incorporated within an electronicmedical record system or any other health information system.

Example 4 Exemplary System for Providing a Personalized DiseasePrevention Recommendations for a Subject

FIG. 2A shows an exemplary system 200 for providing one or morepersonalized disease prevention recommendations for a subject. In theexample, a user interface 202 collects information from a subject. Suchinformation can include family health history information 212 for asubject, personal health history information 234 for a subject, andpersonal health behavior information 236 for a subject.

A familial risk assessor 222 is configured to analyze the family healthhistory 212 and output a measure (e.g., any of the metrics describedherein) of familial risk of disease 232 for one or more diseases.

A combined risk assessor 242 is configured to analyze the familial riskof disease 232, the personal health history information 234, thepersonal health behaviors history information 236, or some combinationthereof to generate a disease prevention recommendation 252. Thecombined risk assessor 242 can comprise various sub-assessors (e.g., apersonal health behavior assessor and the like). In some cases, thecombined risk assessor 242 may detect that additional information can begathered to provide a superior recommendation. Responsive to suchdetection, the assessor 242 can direct collection of the additionalinformation from the subject.

The combined risk assessor 242 can consult one or more risk scenarios248 to generate and provide one or more personalized disease preventionrecommendations 252. The disease prevention recommendations 252 can beincluded as part of a disease prevention plan as described herein.

Example 5 Exemplary Method for Providing Personalized Disease PreventionRecommendations for a Subject

FIG. 2B shows an exemplary method 250 of providing a personalizeddisease prevention recommendation for a subject and can be performed ona system such as that shown in FIG. 2A.

In the example, the family health history information, personal healthhistory information, and personal health behavior information for asubject are received at 260. For example, such information can becollected via any of the user interface techniques described herein.

Then, at 270, familial risk for one or more diseases is determined. Forexample, one or more metrics of familial risk for one or more diseasesfor the subject can be determined based at least on the family healthhistory information of the subject.

At 280, combined assessment (e.g., based on the metrics of familialrisk, family health history information, personal health historyinformation, personal health behavior information, or some combinationthereof) is performed. For example, one or more personalized diseaseprevention recommendations for the subject can be generated during thecombined assessment. Risk scenarios can be consulted as describedherein.

At 290, one or more disease prevention recommendations are presented.The disease prevention recommendations can be included as part of adisease prevention plan (e.g., a personalized disease prevention plan)as described herein. The recommendations and plan can be provided viathe user interfaces described herein (e.g., in a single web-basedsession responsive to the information entered by the subject).

Example 6 Exemplary User Interface

In any of the examples herein, any number of user interfaces can bepresented to a user for collecting information such as family healthhistory information, personal health history information, personalhealth behavior information, or some combination thereof. For example, asoftware-presented user interface can include a set of forms that arepresented (e.g., to a subject user) and completed (e.g., by the subjectuser) via a computerized device.

In any of the examples herein, forms can be presented via a networkeddevice. For example, web pages can be presented via the HTTP protocol orsome other technique. Access can be controlled via username and passwordtechniques.

Example 7 Exemplary Risk Scenarios

In any of the examples described herein, information provided by asubject can be analyzed to determine whether the information fallswithin one or more risk scenarios. For example, any of the informationin the family health history, familial risk of disease, personal healthhistory, health behavior, or combination thereof can be used as criteriafor determining whether the subject satisfies one or more riskscenarios.

In practice, such risk scenarios can be specified as a set of criteriathat can be stored in data structures (e.g., in a table, database, orthe like) on one or more computer-readable media. Such criteria caninclude whether a certain disease appears in the family health history,whether the subject is at risk (e.g., high risk, at least medium risk,and the like) for one or more diseases, whether the subject has ever hadone or more diseases, whether the subject engages in certain healthbehaviors (e.g., engages or has engaged in one or more health-relatedpersonal practices, has had one or more screening tests performed), andthe like.

Example 8 Exemplary Personalized Disease Prevention Recommendations

Based on whether a subject meets one or more risk scenarios, a set ofone or more personalized disease prevention recommendations can bepresented as part of a disease prevention plan for the subject (e.g., apersonalized disease prevention plan). The personalized diseaseprevention recommendations can include information appearing in orderived from any of the information provided by the subject.

Recommendations can include recommendations to continue (e.g., affirm)or modify behaviors or conditions indicated in information collectedfrom the subject. For example, recommendations can be directed topersonal health history such as screening tests (e.g., “Schedule anappointment today.”) or health-related personal practices (e.g., “Stopsmoking now.” “Continue to eat <number> servings of fruit a day.” or“Increase your level of physical activity.”).

Factors that led to the recommendation can be included in therecommendation. For example, one or more of the criteria for the riskscenario can be included. In practice, such factors can be expressed asa plain language (e.g., textual) description of the criteria (e.g.,“Your Body Mass Index is over <number>, and at least one or your firstdegree relatives had <disease> therefore . . . ”).

Example 9 Exemplary Method for Determining Familial Risk of One or MoreDiseases of Interest for a Subject

FIG. 3 shows an exemplary method 300 for determining familial risk ofone or more diseases of interest for a subject.

At 302, family health history of a subject is received. For example,disease history of a subject's first and second degree biologicalrelatives including the number, lineage, and gender of first and seconddegree relatives, whether a relative has a disease of interest or anindicator disease, and the age of the relative at time of diagnosis ofthe disease of interest or indicator disease can be received.

At 304, a disease of interest is determined. For example, heart disease,stroke, diabetes, colorectal cancer, breast cancer, and ovarian cancercan be diseases of interest that are determined.

At 306, familial risk for a subject of the determined disease ofinterest can be assigned. For example, the family health history of asubject's first and second degree biological relatives can be analyzedto assign familial risk. Following the assignment of familial risk forthe determined disease of interest, one or more additional diseases ofinterest can be determined at 304, and familial risk for the one or moreadditional diseases of interest can be assigned.

At 308, results of the assignment of familial risk for the one or morediseases of interest can be presented. For example, familial risk can becategorized as low (e.g., weak), moderate, or high (e.g., strong) andpresented to the subject with accompanying familial risk clarifiers andrecommendations for reducing the level of risk and/or recommendedpreventive medical strategies or exams (e.g., screenings).

Example 10 Exemplary Method for Determining a Subject's Familial Risk ofa Disease of Interest Based on First and Second Degree Relative FamilyHealth History

FIG. 4 shows an exemplary method 400 for determining a subject'sfamilial risk of a disease of interest based on first and second degreerelative family health history.

At 402, family health history for a subject is obtained. Family healthhistory can be obtained via the subject, paper or electronic healthrecords. For example, family health history for a subject can beobtained via questionnaires in an electronic or paper format.

At 404, a disease of interest is determined from the family healthhistory. For example, heart disease, stroke, diabetes, colorectalcancer, breast cancer, and ovarian cancer can be diseases of interestthat are determined.

In the example, the disease of interest is treated as an indicatordisease. Accordingly, at 406, the number of first and second degreerelatives that developed the disease of interest is determined from thefamily health history.

At 408, the age of onset of the disease of interest for the first andsecond degree relatives that developed the disease of interest isdetermined from the family health history. Lineage and gender of thefirst and second degree relatives that developed the disease of interestcan also be determined.

At 410, the number of first and second degree relatives that developed adifferent disease associated with an increased risk of developing thedisease of interest (e.g., a different indicator disease) is determinedfrom the family health history.

At 412, the age of onset of the indicator disease for the first andsecond degree relatives that developed the different disease isdetermined from the family health history. Lineage and gender of thefirst and second degree relatives that developed the different diseasecan also be determined.

At 414, a subject's familial risk of the disease of interest based onthe first and/or second degree relative family health history isassigned. For example, familial risk can be assigned as low (e.g.,weak), moderate, or high (e.g., strong) based on the family healthhistory (e.g., detection of predetermined familial disease historyscenarios).

At 416, results of the assignment of familial risk for the one or morediseases of interest can be presented. For example, familial risk can becategorized as low (e.g., weak), moderate, or high (e.g., strong) andpresented to the subject with accompanying familial risk clarifiers andrecommendations for reducing the level of risk and/or recommendedpreventive medical strategies or exams (e.g., screenings).

Example 11 Exemplary Computer-Implemented Method for DeterminingFamilial Risk of One or More Diseases of Interest

FIG. 5 shows an exemplary computer-implemented method 500 fordetermining familial risk of one or more diseases of interest.

At 502, family health history is received. For example, disease historyof a subject's first and second degree biological relatives includingthe number, gender, and lineage of first and second degree relatives,whether a relative has a disease of interest or an indicator disease,and the age of the relative at time of diagnosis of disease of interestor indicator disease can be received.

At 504, familial risk of one or more diseases of interest is determinedbased on first and/or second degree relatives having the one or morediseases of interest or indicator diseases.

At 506, results of the assignment of familial risk for the one or morediseases of interest can be presented. For example, familial risk can becategorized as low (e.g., weak), moderate, or high (e.g., strong) andpresented with accompanying familial risk clarifiers and recommendationsfor reducing the level of risk and/or recommended preventive medicalstrategies or exams (e.g., screenings).

Example 12 Exemplary System for Determining a Disease Prevention Planfor a Subject Based on Familial Risk

FIG. 6 shows an exemplary system 600 for determining a diseaseprevention plan for a subject based on familial risk.

Health records 602 of a subject are obtained and input into a familialrisk assessor 604 to assess the familial risk of one or more diseases.

The familial risk assessor 604 can employ one or more disease matrices606 to determine familial risk of one or more diseases. For example, adisease matrix can include a two-dimensional table with variouspredetermined familial disease health scenarios on both the x axis and yaxis. The intersection of two predetermined familial disease historyscenarios in a disease matrix can result in a familial risk assessmentbeing assigned based on the intersection of the two scenarios.Furthermore, familial risk clarifiers (e.g., qualifying statements whichclarify or further explain the assignment of familial risk of diseasebased on the intersection of two predetermined familial disease historyscenarios) can be incorporated into one or more disease matrixintersections.

Familial risk assessment, familial risk classifiers, and a diseaseprevention plan based on familial risk, personal health historyinformation, and/or personal health behavior information can bepresented as results by a results presenter 608.

A disease prevention plan can be determined for a subject as describedin detail below.

Example 13 Another Exemplary Method for Determining Familial Risk ofDisease of a Subject

FIG. 7 shows another method 700 for determining familial risk of diseaseof a subject. For example, system 600 can be implemented to performmethod 700.

At 702, health records are received. For example, personal healthhistory records and health records of one or more relatives can bereceived. The health records can include disease history of a subject'sfirst and second degree biological relatives including the number,gender, and lineage of first and second degree relatives, whether arelative has a disease of interest or an indicator disease, and the ageof the relative at time of diagnosis of disease of interest or indicatordisease can be received. Additionally, health records can includepersonal health history information such as name, date of birth, gender,age, race/ethnicity, height, weight, whether a subject currently has anydisease of interest or indicator disease, personal health behaviorinformation, or any combination thereof. Personal health behaviorinformation can include information related to smoking, exercise, diet,screening tests, and the like.

At 704, familial disease data can be determined from the health recordsreceived. For example, disease history of a subject's first and seconddegree biological relatives including the number, gender, and lineage offirst and second degree relatives, whether a relative has an indictordisease, and the age of the relative at time of diagnosis of theindicator disease can be determined.

At 706, one or more familial risk matrices can be consulted to determinefamilial risk of disease of the subject based on determined familialdisease data. For example, predetermined familial disease healthscenarios (e.g., disease data on first and second degree relatives) canbe compared to familial risk matrices (e.g., matrices that assign acategorization of familial risk of disease) to determine if anintersection of two predetermined familial disease history scenarios ispresent.

At 708, results of the consultation of the one or more familial riskmatrices can be provided as results of the determination of familialrisk of disease (e.g., as part of a disease prevention plan or to selecta disease prevention plan). For example, an intersection of twopredetermined familial disease history scenarios can result in a riskassessment being assigned. Additionally, familial risk clarifiers can beprovided with the results to clarify or further explain thedetermination of familial risk of disease.

Example 14 Exemplary Familial Risk Matrix for Determining Familial Riskof Disease Based on Family Health History

FIG. 8 illustrates an exemplary familial risk matrix 800 for determiningfamilial risk of disease based on family health history. Such a matrixcan be used to assess a subject's risk of developing a disease ofinterest in any of the examples herein.

The x-axis of the matrix includes predetermined familial disease historyscenarios 802 (e.g. A, B, C . . . ) and the y-axis of the matrixincludes predetermined familial disease history scenarios 804 (e.g. 1,2, 3 . . . ). For example, scenarios based on the number of first andsecond degree relatives from one lineage (e.g., nuclear, maternal orpaternal) having a disease of interest or an indicator disease, the ageof the relative at time of diagnosis of the disease of interest or theindicator disease, and the gender of the relative can be predeterminedfamilial disease scenarios 802 and 804. In matrices in which breastcancer or ovarian cancer is the disease of interest, for example,Ashkenazi Jewish ancestry can also be a predetermined familial diseasescenario.

The intersection of two predetermined familial disease history scenariosin a disease matrix results in a cell 806 which includes a riskassessment category (e.g. “Risk”) being assigned based on theintersection of the two scenarios. Risk can be assigned one of threelevels of risk for a disease represented by uppercase letters: low orweak familial risk (A), moderate familial risk (M), or strong or highfamilial risk (H). Furthermore, familial risk clarifiers (e.g.“Clarifiers”) can be included with the assignment of risk, therebyincorporating references to qualifying statements which clarify orfurther explain the assignment of familial risk of disease based on theintersection of two predetermined familial disease history scenarios(e.g., based on a familial or hereditary syndrome). Such familial riskclarifiers can be represented by lower case letter in the matrix and thereferences incorporated into the providing and presentation of results.Such familial risk clarifiers can be provided according to a general ordisease-specific hierarchy as described in detail below.

Analysis of multiple intersections of two predetermined familial diseasehistory scenarios can result in an overall familial risk leveldetermination for the disease of interest. For example, the highest risklevel determined can be selected as the overall familial risk leveldetermination for the disease of interest.

Familial risk matrices for select diseases of interest are described indetail below.

Example 15 Exemplary Familial Risk Matrices for Determining FamilialRisk of Breast Cancer Based on Family Health History

FIGS. 9-11 illustrate exemplary familial risk matrices 900, 1000, and1100 (according to the form of exemplary familial risk matrix 800) fordetermining familial risk of breast cancer based on family healthhistory. Shaded areas of the matrices are duplicative cells within eachmatrix.

In the example, the definition of age of onset of breast cancer isdefined as:

Breast cancer: early <age 50; late > or =age 50

There are up to six familial/hereditary syndromes that feature breastcancer. A listing of single gene disorders that feature breast cancercan be found in: Scheuner M T, Yoon P, Khoury M J. “Contribution ofmendelian disorders to chronic disease: opportunities for recognition,intervention, and prevention.” Am J Med Genet 2004; 125C:50-65, herebyincorporated by reference herein. The two most common forms arehereditary breast-ovarian cancer (HBOC) and hereditary site-specificbreast cancer. Both are associated with germline BRCA1 and BRCA2mutations. Most families with HBOC have BRCA mutations, and about halfof families with hereditary site-specific breast cancer have BRCAmutations. The breast cancer familial risk matrices 900, 1000, and 1100recognize familial characteristics that are associated with an increasedrisk of breast cancer, as well as the two common familial syndromes thatfeature breast cancer. Pattern recognition for families with HBOC/BRCAgene mutations is based on the NCCN Practice Guidelines in Oncology—v.1.2004.

One of three levels of familial risk for a disease is assigned. Thethree levels of familial risk can be represented by uppercase letters:low or weak familial risk (A), moderate familial risk (M), or strong orhigh familial risk (H)

Familial risk clarifiers for the breast cancer matrices 900, 1000, and1100 include:

a=At least one family member with both breast and ovarian cancer. Thecombination of these cancers is a risk factor for breast cancer and canbe a sign of an inherited form of breast cancer called hereditarybreast-ovarian cancer.

b=Closely related family members with breast and ovarian cancer. Thecombination of these two cancers is a risk factor for breast cancer andcan be a sign of an inherited form of breast cancer called hereditarybreast-ovarian cancer.

c=Two or more closely related family members with ovarian cancer.Although a different cancer, a family history of ovarian cancer is arisk factor for breast cancer and can be a sign of an inherited form ofbreast cancer called hereditary breast-ovarian cancer.d=At least one family member with male breast cancer, which can be asign of an inherited form of breast cancer.e=At least one family member with breast cancer at a young age.f=Two or more closely related family members with breast cancer.g=A family member with breast cancer at a later age.h=A family member with ovarian cancer, which can be a risk factor forbreast cancer.i=Three or more closely related family members with breast cancer.j=Some inherited forms of breast and ovarian cancer are more common inAshkenazi Jewish families, and this is noted if personal healthinformation collected included ethnicity.

Example 16 Exemplary Hierarchy of Presentation of Familial RiskClarifiers in Familial Risk Matrices for Determining Familial Risk ofBreast Cancer Based on Family Health History

Familial risk clarifiers in familial risk matrices for determiningfamilial risk of breast cancer (according to example 10) based on familyhealth history can be provided according to a hierarchy. For example, ahierarchy utilizing familial risk clarifiers described in example 10 canbe as follows:

Familial risk clarifier “a” can be presented;

Familial risk clarifier “b” can be presented;

Familial risk clarifier “c” can be presented;

Familial risk clarifier “d” can be presented;

Familial risk clarifier “e” can be presented;

Familial risk clarifier “f” can be presented when familial riskclarifier “i” is not presented;

Familial risk clarifier “g” can be presented if:

-   -   Familial risk clarifier “a” is not presented; or Familial risk        clarifier “b” is not presented; or Familial risk clarifier “d”        is not presented; or Familial risk clarifier “e” is not        presented; or Familial risk clarifier “f” is not presented; or        Familial risk clarifier “i” is not presented;

Familial risk clarifier “h can be presented if:

-   -   Familial risk clarifier “a” is not presented; or Familial risk        clarifier “b” is not presented;        or Familial risk clarifier “c” is not presented;

Familial risk clarifier “i” can be presented; and

Familial risk clarifier “j” can be presented.

Example 17 Exemplary Familial Risk Matrices for Determining FamilialRisk of Ovarian Cancer Based on Family Health History

FIGS. 12-17 illustrate exemplary familial risk matrices 1200, 1300,1400, 1500, 1600, and 1700 (according to the form of exemplary familialrisk matrix 800) for determining familial risk of ovarian cancer basedon family health history. Shaded areas of the matrices are duplicativecells within each matrix.

In the example, the definition of age of onset of breast cancer isdefined as:

Breast cancer: early <age 50; late > or =age 50.

In the example, the definition of early age of onset of colon cancer isdefined as:

Colon cancer: early <age 50; late > or =age 50.

There are several familial/hereditary syndromes that feature ovariancancer, including hereditary site-specific ovarian cancer, hereditarybreast-ovarian cancer (HBOC) and hereditary nonpolyposis colon cancer(HNPCC). A listing of single gene disorders that feature ovarian cancercan be found in: Scheuner M T, Yoon P, Khoury M J. “Contribution ofmendelian disorders to common chronic disease: opportunities forrecognition, intervention and prevention.” Am J Med Genet 2004;125C:50-65. Hereditary breast-ovarian cancer (HBOC) is associated withgermline BRCA1 and BRCA2 mutations, and most families with HBOC haveBRCA mutations. HNPCC is associated with germline mutations in mismatchrepair genes (most commonly MSH2 and MLH1). The ovarian cancer familialrisk matrices 1200, 1300, 1400, 1500, 1600, and 1700 recognize familialcharacteristics that are associated with an increased risk of ovariancancer, as well as the common familial syndromes that feature ovariancancer. Pattern recognition for families with HBOC/BRCA gene mutationswas based on the NCCN Practice Guidelines in Oncology—v. 1.2004. Patternrecognition for families with HNPCC is based on the Amsterdam Criteriaand the Revised Bethesda Guidelines.

One of three levels of familial risk for a disease is assigned. Thethree levels of risk for a disease can be represented by uppercaseletters: low or weak familial risk (A), moderate familial risk (M), orstrong or high familial risk (H).

Familial risk clarifiers for the ovarian cancer familial risk matrices1200, 1300, 1400, 1500, 1600, and 1700 include:

-   a≦At least one family member with ovarian, breast, and colon cancer.    The combination of these cancers can be a sign of an inherited form    of ovarian cancer—either hereditary breast-ovarian cancer or    hereditary nonpolyposis colon cancer.-   b=At least one family member with both ovarian and breast cancer.    The combination of these cancers is-   a risk factor for ovarian cancer and can be a sign of an inherited    form of ovarian cancer called hereditary breast-ovarian cancer.-   c=At least one family member with both ovarian and colon cancer. The    combination of these cancers can be a sign of an inherited form of    ovarian cancer called hereditary nonpolyposis colon cancer.-   e=Closely related family members with both ovarian and breast    cancer. The combination of these cancers is a risk factor for    ovarian cancer and can be a sign of an inherited form of ovarian    cancer called-   hereditary breast-ovarian cancer.-   f=Closely related family members with both ovarian and colon cancer.    The combination of these cancers can be a sign of an inherited form    of ovarian cancer called hereditary nonpolyposis colon cancer.-   g=Two or more close family members with ovarian cancer.-   h=A family member with ovarian cancer.-   i=At least one family member with breast cancer at a young age.    Although a different cancer, early-onset breast cancer can be a risk    factor for ovarian cancer and can be a sign of an inherited form of    ovarian cancer called hereditary breast-ovarian cancer.-   j=Two or more closely related family members with breast cancer.    Although a different cancer, breast-   cancer can be a risk factor for ovarian cancer and can be a sign of    an inherited form of ovarian cancer called hereditary breast-ovarian    cancer.-   k=Three or more closely related family members with breast cancer.    Although a different cancer, breast cancer can be a risk factor for    ovarian cancer and can be a sign of an inherited form of ovarian    cancer called hereditary breast-ovarian cancer.-   l=At least one male family member with breast cancer, which can be a    sign of an inherited form of ovarian cancer called hereditary    breast-ovarian cancer.-   m=At least one family member with colon cancer at a young age.    Early-onset colon cancer can be a sign-   of an inherited form of ovarian cancer called hereditary    nonpolyposis colon cancer.-   n=Two or more closely related family members with colon cancer.    Although a different cancer, a family-   history of colon cancer can be a sign of an inherited form of    ovarian cancer called hereditary nonpolyposis colon cancer.-   o=Some inherited forms of breast and ovarian cancer are more common    in Ashkenazi Jewish families, and this is noted if personal health    information collected included ethnicity.

Example 18 Exemplary Hierarchy of Presentation of Familial RiskClarifiers in Familial Risk Matrices for Determining Familial Risk ofOvarian Cancer Based on Family Health History

Familial risk clarifiers in familial risk matrices for determiningfamilial risk of ovarian cancer (according to example 12) based onfamily health history can be provided according to a hierarchy. Forexample, a hierarchy utilizing familial risk clarifiers described inexample 12 can be as follows:

Familial risk clarifier “a” can be presented;

Familial risk clarifier “b” can be presented;

Familial risk clarifier “c” can be presented;

Familial risk clarifier “e” can be presented;

Familial risk clarifier “f” can be presented;

Familial risk clarifier “g” can be presented;

Familial risk clarifier “i” can be presented;

Familial risk clarifier “j” can be presented if familial risk clarifier“k” is not presented;

Familial risk clarifier “k” can be presented;

Familial risk clarifier “l” can be presented;

Familial risk clarifier “m” can be presented;

Familial risk clarifier “n” can be presented; and

Familial risk clarifier “o” can be presented.

Example 19 Exemplary Familial Risk Matrices for Determining FamilialRisk of Colon Cancer Based on Family Health History

FIGS. 18-20 illustrate exemplary familial risk matrices 1800, 1900, and2000 (according to the form of exemplary familial risk matrix 800) fordetermining familial risk of colon cancer based on family healthhistory. Shaded areas of the matrices are duplicative cells within eachmatrix.

In the example, the definition of age of onset of colon cancer isdefined as:

Colon cancer: early <age 50; late > or =age 50.

There are several familial/hereditary syndromes that feature coloncancer, including polyposis and nonpolyposis syndromes. A listing ofsingle gene disorders that feature colon cancer can be found in:Scheuner M T, Yoon P, Khoury M J. “Contribution of mendelian disordersto common chronic disease: opportunities for recognition, interventionand prevention.” Am J Med Genet 2004; 125C:50-65. The most commonfamilial syndrome is hereditary nonpolyposis colon cancer (HNPCC), whichis associated with germline mutations in mismatch repair genes (mostcommonly MSH2 and MLH1). These matrices recognize familialcharacteristics that are associated with an increased risk of coloncancer, as well as HNPCC. Pattern recognition for families with HNPCC isbased on the Amsterdam Criteria and the Revised Bethesda Guidelines.

One of three levels of familial risk for a disease is assigned. Thethree levels of risk for a disease can be represented by uppercaseletters: low or weak familial risk (A), moderate familial risk (M), orstrong or high familial risk (H).

Familial risk clarifiers for the colon cancer familial risk matrices1800, 1900, and 2000 include:

a=At least one family member with both colon and ovarian cancer. Thecombination of these cancers can be a sign of an inherited form of coloncancer called hereditary nonpolyposis colon cancer.

b=Closely related family members with colon and ovarian cancer. Thecombination of these cancers can be a sign of an inherited form of coloncancer called hereditary nonpolyposis colon cancer.

c=At least one family member with colon cancer at a young age.

d=Two or more closely related family members with colon cancer.

e=Three or more closely related family members with colon cancer.

f=Two or more closely related family members with ovarian cancer.Although a different cancer, a family history of ovarian cancer can be asign of an inherited form of colon cancer called hereditary nonpolyposiscolon cancer.

g=A family member with colon cancer.

Example 20 Exemplary Hierarchy of Presentation of Familial RiskClarifiers in Familial Risk Matrices for Determining Familial Risk ofColon Cancer Based on Family Health History

Familial risk clarifiers in familial risk matrices for determiningfamilial risk of colon cancer (according to example 14) based on familyhealth history can be provided according to a hierarchy.

For example, a hierarchy utilizing familial risk clarifiers described inexample 14 can be as follows:

For example, a hierarchy can be as follows:

Familial risk clarifier “a” can be presented;

Familial risk clarifier “b” can be presented;

Familial risk clarifier “c” can be presented;

Familial risk clarifier “d” can be presented if familial risk clarifier“e” is not presented;

Familial risk clarifier “e” can be presented;

Familial risk clarifier “f” can be presented; and

Familial risk clarifier “g” can be presented if:

-   -   Familial risk clarifier “a” is not presented; or Familial risk        clarifier “b” is not presented;        or Familial risk clarifier “c” is not presented; or Familial        risk clarifier “d” is not presented; or Familial risk clarifier        “e” is not presented.

Example 21 Exemplary Familial Risk Matrices for Determining FamilialRisk of Coronary Heart Disease Based on Family Health History

FIGS. 21-26 illustrate exemplary familial risk matrices 2100, 2200,2300, 2400, 2500, and 2600 (according to the form of exemplary familialrisk matrix 800) for determining familial risk of coronary heart diseasebased on family health history. Shaded areas of the matrices areduplicative cells within each matrix.

In the example, the definition of age of onset of coronary heart diseaseis defined as:

Coronary heart disease: Men, early <age 55; late > or =age 55.

-   -   Women, early <age 65; late > or =age 65.

In the example, the definition of age of onset of stroke is defined as:

Stroke: early <age 60; late > or =age 60.

In the example, the definition of age of onset of diabetes is definedas:

Diabetes: Early (type 1)<age 20; late (Type 2)> or =age 20.

Familial “syndromes” or phenotypes that feature coronary heart disease(CHD) include: Metabolic syndrome which can feature CHD, type 2 diabetes(DM) and stroke (CVA); CHD and stroke; and CHD-specific families.

A listing of single gene disorders that feature coronary heart diseaseor myocardial infarction can be found in: Scheuner M T, Yoon P, Khoury MJ. “Contribution of mendelian disorders to common chronic disease:opportunities for recognition, intervention and prevention.” Am J MedGenet 2004; 125C:50-65. Definitions of metabolic syndrome have beenproposed by three national organizations: 1) NCEP ATPIII, 2) WHO (WorldHealth Organization) and the 3) American Association of ClinicalEndocrinologists (AACE). Although the metabolic syndrome is a familialdisease and genetic factors are associated with the phenotype, only theAACE considers family history of type 2 diabetes, hypertension orcardiovascular disease in their definition. For a review of thedefinitions see Grundy S M, Brewer H B, Cleeman J I, Smith S C, LenfantC et al., “Definition of the metabolic syndrome.” Report of the NationalHeart, Lung, and Blood Institute/American Heart Association Conferenceon Scientific Issues Related to Definition. Circulation 2004;109:433-438, hereby incorporated herein by reference.

One of three levels of familial risk for a disease is assigned. Thethree levels of risk for a disease can be represented by uppercaseletters: low or weak familial risk (A), moderate familial risk (M), orstrong or high familial risk (H).

Familial risk clarifiers for the coronary heart disease familial riskmatrices 2100, 2200, 2300, 2400, 2500, and 2600 include:

-   a=At least one family member with coronary heart disease, diabetes    and stroke. The combination of these conditions can be a sign of the    metabolic syndrome.-   b=At least one family member with coronary heart disease and    diabetes. The combination of these conditions can be a sign of the    metabolic syndrome.-   c=At least one family member with coronary heart disease and stroke.    The combination of these conditions is a risk factor for coronary    heart disease.-   d=At least one family member with stroke and diabetes. The    combination of these conditions can be a-   sign of the metabolic syndrome.-   e=Closely related family members with coronary heart disease and    diabetes. The combination of these-   conditions can be a sign of the metabolic syndrome.-   f=Closely related family members with coronary heart disease and    stroke. The combination of these conditions is a risk factor for    coronary heart disease.-   g=Closely related family members with stroke and diabetes. The    combination of these conditions can be-   a sign of the metabolic syndrome.-   h=At least one family member with coronary heart disease at a young    age. Early-onset disease is a sign of a greater number of    cardiovascular risk factors.-   i=Two or more closely related family members with coronary heart    disease.-   j=Three or more closely related family members with coronary heart    disease.-   k=Two or more closely related family members with diabetes, which    can be a sign of the metabolic syndrome.-   l=A family member with diabetes, which can be a sign of the    metabolic syndrome.-   m=At least one family member with stroke at a young age. Stroke and    coronary heart disease share many risk factors. Early-onset disease    is a sign of a greater number of cardiovascular risk factors.-   n=Two or more closely related family members with stroke. Stroke and    coronary heart disease share many risk factors.-   o=A family member with coronary heart disease.-   p=Closely related family members with coronary heart disease,    diabetes and stroke. The combination of-   these conditions can be a sign of the metabolic syndrome.

Example 22 Exemplary Hierarchy of Presentation of Familial RiskClarifiers in Familial Risk Matrices for Determining Familial Risk ofCoronary Heart Disease Based on Family Health History

Familial risk clarifiers in familial risk matrices for determiningfamilial risk of coronary heart disease (according to example 16) basedon family health history can be provided according to a hierarchy. Forexample, a hierarchy utilizing familial risk clarifiers described inexample 16 can be as follows:

Familial risk clarifier “a” can be presented;

Familial risk clarifier “b” can be presented;

Familial risk clarifier “c” can be presented;

Familial risk clarifier “d” can be presented if familial risk clarifier“e” is not presented;

Familial risk clarifier “e” can be presented if familial risk clarifier“p” is not presented;

Familial risk clarifier “f” can be presented if familial risk clarifier“p” is not presented;

Familial risk clarifier “g” can be presented if familial risk clarifier“p” is not presented;

Familial risk clarifier “h” can be presented;

Familial risk clarifier “i” can be presented if familial risk clarifier“j” is not presented;

Familial risk clarifier “j” can be presented;

Familial risk clarifier “k” can be presented;

Familial risk clarifier “l” can be presented if:

-   -   Familial risk clarifier “a” is not presented; or Familial risk        clarifier “b” is not presented;        or Familial risk clarifier “d” is not presented; or Familial        risk clarifier “e” is not presented; or Familial risk clarifier        “g” is not presented; or Familial risk clarifier “k” is not        presented; or Familial risk clarifier “p” is not presented;

Familial risk clarifier “m” can be presented;

Familial risk clarifier “n” can be presented;

Familial risk clarifier “o” can be presented if:

-   -   Familial risk clarifier “a” is not presented; or Familial risk        clarifier “b” is not presented;        or Familial risk clarifier “c” is not presented; or Familial        risk clarifier “e” is not presented; or Familial risk clarifier        “f” is not presented; or Familial risk clarifier “h” is not        presented; or Familial risk clarifier “i” is not presented; or        Familial risk clarifier “j” is not presented; or Familial risk        clarifier “p” is not presented; and

Familial risk clarifier “p” can be presented if:

-   -   Familial risk clarifier “a” is not presented; or Familial risk        clarifiers “b” and “d” are not        presented.

Example 23 Exemplary Familial Risk Matrices for Determining FamilialRisk of Stroke Based on Family Health History

FIGS. 27-32 illustrate exemplary familial risk matrices 2700, 2800,2900, 3000, 3100, and 3200 (according to the form of exemplary familialrisk matrix 800) for determining familial risk of stroke based on familyhealth history. Shaded areas of the matrices are duplicative cellswithin each matrix.

In the example, the definition of age of onset of stroke is defined as:

Stroke: early <age 60; late > or =age 60.

In the example, the definition of age of onset of coronary heart diseaseis defined as:

Coronary heart disease: Men, early <age 55; late > or =age 55.

-   -   Women, early <age 65; late > or =age 65.

In the example, the definition of age of onset of diabetes is definedas:

Diabetes: Early (type 1)<age 20; late (Type 2)> or =age 20.

Familial “syndromes” or phenotypes that feature stroke (CVA) include:

Metabolic syndrome which can feature CHD, type 2 diabetes (DM) andstroke (CVA);

Stroke and CHD; and

Stroke-specific families

A listing of single gene disorders that feature stroke can be found in:Scheuner M T, Yoon P, Khoury M J. “Contribution of mendelian disordersto common chronic disease: opportunities for recognition, interventionand prevention.” Am J Med Genet 2004; 125C:50-65. Definitions ofmetabolic syndrome have been proposed by three nationalorganizations: 1) NCEP ATPIII, 2) WHO and the 3) American Association ofClinical Endocrinologists (AACE). Although the metabolic syndrome is afamilial disease and genetic factors are associated with the phenotype,only the AACE considers family history of type 2 diabetes, hypertensionor cardiovascular disease in their definition. For a review of thedefinitions see Grundy S M, Brewer H B, Cleeman J I, Smith S C, LenfantC et al., “Definition of the metabolic syndrome.” Report of the NationalHeart, Lung, and Blood Institute/American Heart Association Conferenceon Scientific Issues Related to Definition. Circulation 2004;109:433-438.

One of three levels of familial risk for a disease is assigned. Thethree levels of risk for a disease can be represented by uppercaseletters: low or weak familial risk (A), moderate familial risk (M), orstrong or high familial risk (H).

Familial risk clarifiers for the stroke familial risk matrices 2700,2800, 2900, 3000, 3100, and 3200 include:

-   a=At least one family member with stroke, coronary heart disease and    diabetes. The combination of these-   conditions can be a sign of the metabolic syndrome.-   b=At least one family member with stroke and diabetes. The    combination of these conditions can be a sign-   of the metabolic syndrome.-   c=At least one family member with stroke and coronary heart disease.    The combination of these conditions is a risk factor for stroke.-   d=At least one family member with coronary heart disease and    diabetes. The combination of these conditions can be a sign of the    metabolic syndrome.-   e=Closely related family members with stroke and diabetes. The    combination of these conditions can be a-   sign of the metabolic syndrome.-   f=Closely related family members with stroke and coronary heart    disease. The combination of these conditions is a risk factor for    stroke.-   g=Closely related family members with coronary heart disease and    diabetes. The combination of these conditions can be a sign of the    metabolic syndrome.-   h=At least one family member with stroke at a young age. Early-onset    disease is a sign of a greater number-   of cardiovascular risk factors.-   i=Two or more closely related family members with stroke.-   j=Three or more closely related family members with stroke.-   k=Two or more closely related family members with coronary heart    disease. Although a different type of-   disease, coronary heart disease is a risk factor for stroke.-   l=At least one family member with coronary heart disease at a young    age. Although a different disease, coronary heart disease is a risk    factor for stroke. Early-onset disease is a sign of a greater number    of cardiovascular risk factors.-   m=A family member with coronary heart disease. Although a different    disease, coronary heart disease is a-   risk factor for stroke.-   n=Two or more closely related family members with diabetes, which    can be a sign of the metabolic syndrome.-   o=A family member with stroke.-   p=Closely related family members with stroke, coronary heart disease    and diabetes. The combination of

these conditions can be a sign of the metabolic syndrome.

Example 24 Exemplary Hierarchy of Presentation of Familial RiskClarifiers in Familial Risk Matrices for Determining Familial Risk ofCoronary Heart Disease Based on Family Health History

Familial risk clarifiers in familial risk matrices for determiningfamilial risk of coronary heart disease (according to example 18) basedon family health history can be provided according to a hierarchy. Forexample, a hierarchy utilizing familial risk clarifiers described inexample 18 can be as follows:

Familial risk clarifier “a” can be presented;

Familial risk clarifier “b” can be presented;

Familial risk clarifier “c” can be presented;

Familial risk clarifier “d” can be presented;

Familial risk clarifier “e” can be presented if familial risk clarifier“p” is not presented;

Familial risk clarifier “f” can be presented if familial risk clarifier“p” is not presented;

Familial risk clarifier “g” can be presented if familial risk clarifier“p” is not presented;

Familial risk clarifier “h” can be presented;

Familial risk clarifier “i” can be presented if familial risk clarifier“j” is not presented;

Familial risk clarifier “j” can be presented;

Familial risk clarifier “k” can be presented;

Familial risk clarifier “l” can be presented;

Familial risk clarifier “m” can be presented if:

-   -   Familial risk clarifier “a” is not presented; or Familial risk        clarifier “c” is not presented;        or Familial risk clarifier “d” is not presented; or Familial        risk clarifier “f” is not presented; or Familial risk clarifier        “g” is not presented; or Familial risk clarifier “k” is not        presented; or Familial risk clarifier “l” is not presented; or        Familial risk clarifier “p” is not presented;

Familial risk clarifier “p” can be presented if:

-   -   Familial risk clarifier “a” is not presented; or Familial risk        clarifiers “b” and “d” are not presented.

Example 25 Exemplary Familial Risk Matrices for Determining FamilialRisk of Type 2 Diabetes Based on Family Health History

FIGS. 33-35 illustrate exemplary familial risk matrices 3300, 3400, and3500, (according to the form of exemplary familial risk matrix 800) fordetermining familial risk of type 2 diabetes based on family healthhistory. Shaded areas of the matrices are duplicative cells within eachmatrix.

In the example, the definition of age of onset of diabetes is definedas:

Diabetes: Early (type 1)<age 20; late (Type 2)> or =age 20.

Type 2 diabetes aggregates in families, and family history of type 2diabetes is a significant risk factor for type 2 diabetes. Type 1diabetes (usually diagnosed before age 20) is an autoimmune disorder.Type 1 diabetes typically does not aggregate in families and thus familyhistory is not a significant risk factor for this disorder.Additionally, a history of type 1 diabetes is not a significant riskfactor for type 2 diabetes. Therefore, when assessing familial risk fortype 2 diabetes, the familial risk matrices only consider diabetesdiagnosed at or after age 20.

These algorithms within the familial risk matrices 3300, 3400, and 3500are designed to assess familial risk of type 2 diabetes (also known asadult-onset diabetes and non-insulin dependent diabetes). Type 2diabetes accounts for more then 90% of all diabetes in adults. Most type2 diabetes is due to insulin resistance and these patients are at highrisk for the conditions associated with the metabolic syndrome (e.g.,diabetes, coronary heart disease, stroke, hypertension anddyslipidemia).

A listing of single gene disorders that feature diabetes can be foundin: Scheuner M T, Yoon P, Khoury M J. “Contribution of mendeliandisorders to common chronic disease: opportunities for recognition,intervention and prevention.” Am J Med Genet 2004; 125C:50-65.

One of three levels of familial risk for a disease is assigned. Thethree levels of risk for a disease can be represented by uppercaseletters: low or weak familial risk (A), moderate familial risk (M), orstrong or high familial risk (H).

Familial risk clarifiers for the type 2 diabetes familial risk matrices3300, 3400, and 3500 include:

a=Three or more closely related family members with adult-onsetdiabetes.

b=Two or more closely related family members with adult-onset diabetes.

c=A family member with adult-onset diabetes.

Example 26 Exemplary Hierarchy of Presentation of Familial RiskClarifiers in Familial Risk Matrices for Determining Familial Risk ofType 2 Diabetes Based on Family Health History

Familial risk clarifiers in familial risk matrices for determiningfamilial risk of diabetes (according to example 20) based on familyhealth history can be provided according to a hierarchy. For example, ahierarchy utilizing familial risk clarifiers described in example 20 canbe as follows:

Familial risk clarifier “a” can be presented;

Familial risk clarifier “b” can be presented if familial risk clarifiera is not presented;

Familial risk clarifier “c” can be presented if:

-   -   Familial risk clarifier “a” is not presented; or Familial risk        clarifier “b” is not presented.

Example 27 Exemplary System for Determining a Disease Prevention Plan

FIG. 36 shows an exemplary system 3600 for determining a diseaseprevention plan.

Health history collector 3602 can collect health history information andinput the information into a familial risk assessor 3604 to assess thefamilial risk of one or more diseases. For example, electronic orpaper-based questionnaires can be health history collectors and familialrisk matrices (as described in the above examples) can be familial riskassessors. The familial risk assessor 3604 can employ any of the methodsdescribed above.

A disease prevention plan presenter 3606 can receive information fromthe health history information (e.g., demographic information, healthhistory information, behavior information, participation in screeningtests, and the like) and familial risk assessor and present a diseaseprevention plan. An electronic or paper-based report can be a diseaseprevention plan presenter. Such reports can include familial diseaserisk, familial risk clarifiers, pedigree presentation (e.g., a familytree display indicating disease in family members) and recommendationsfor screening tests, behavioral recommendations (e.g., changes oraffirmations), and the like. Exemplary health collectors and diseaseprevention plan reports are shown in the examples below.

Example 28 Exemplary Risk Scenarios

In any of the examples herein, risk scenarios can be developed based onfamilial risk (e.g., as assessed by the disease matrices describedabove) and personal health history information collected.Recommendations can be made based on exemplary risk scenarios to beincluded as part of a personalized disease prevention plan for asubject.

Example 29 Exemplary Breast Cancer Disease Prevention Recommendations

An exemplary disease prevention plan (e.g., for use with system 3600)based on breast cancer familial risk assessment and screening questionsis shown below. Screening questions can include the following questions:

1) A clinical breast exam is when a doctor or other health professionalexamines your breasts and feels for lumps and other changes. Have youhad a clinical breast exam?

_(——————) Never

_(——————) Yes, within the past year

_(——————) Yes, 1 to 2 years ago

_(——————) Yes, 3 to 5 years ago

_(——————) Yes, 6 to 10 years ago

_(——————) Yes, more than 10 years ago

_(——————) Don't know/Not sure

2) A mammogram is an x-ray of each breast to look for early signs ofbreast cancer. Have you had a mammogram?

_(——————) Never

_(——————) Yes, within the past year

_(——————) Yes, 1 to 2 years ago

_(——————) Yes, 3 to 5 years ago

_(——————) Yes, 6 to 10 years ago

_(——————) Yes, more than 10 years ago

_(——————) Don't know/Not sure

The following risk scenarios are examples of exemplary diseaseprevention plan recommendations based on answers to the above questionsand familial risk assessment. The following six risk scenarios can occurif a subject has no prior history of breast cancer and has not hadscreenings.

Risk Scenario 1.

If a female subject has not had either screening test, and if thesubject has weak familial risk for breast cancer and age=21 and has nothad clinical breast exam within the past year, or user age=22 and <40and has not had clinical breast exam within past 1 to 2 years, then thefollowing recommendation is provided:

Talk to your health professional about a breast exam and when to getbreast cancer screening.

A clinical breast exam is a breast cancer screening test that may helpdetect breast cancer early, when it is most treatable. Clinical breastexams are used in combination with mammograms when you reach age 40 andolder. Talk to your health professional about breast cancer screeningtests, and when and how often you should be screened.

Risk Scenario 2.

If a female subject has not had a mammogram within the past year and ifthe subject has weak familial risk for breast cancer and age=or >41,then the following recommendation is provided:

Schedule breast cancer screening today.

Mammograms and clinical breast exams are screening tests that can helpdetect breast cancer early, when it is most treatable. Talk to yourhealth professional about scheduling breast cancer screening at leastevery one to two years.

Risk Scenario 3.

If a female subject has moderate familial risk for breast cancer and nopersonal history of breast cancer or ovarian cancer, and age=21 and hasnot had a clinical breast exam or mammogram within the past year, orsubject age=22 or <40 and has not had clinical breast exam or mammogramwithin the past 1 to 2 years, then the following recommendation isprovided:

You may benefit from breast cancer screening at a younger age than isusually recommended. Talk to your health professional about your familyhistory, how it affects your breast cancer risk, and your options forscreening and prevention.

Clinical breast exams and mammograms are screening tests that can helpdetect breast cancer early, when it is most treatable. Mammograms aremost effective and reliable when performed in women age 40 and older.Due to your family history, a mammogram at an earlier age or anothertype of screening test or prevention option may be helpful. Talk to yourhealth professional about your risk of breast cancer, the best tests foryou, and when and how often you should be screened.

Risk Scenario 4.

If a female subject has moderate familial risk for breast cancer and nopersonal history of breast cancer or ovarian cancer, and age=or >41 andthe subject has not had mammogram within past year, then the followingrecommendation is provided:

Schedule breast cancer screening today. Talk to your health professionalabout your family history, how it affects your breast cancer risk, andyour options for screening and prevention.

Mammograms and clinical breast exams are screening tests that can helpdetect breast cancer early, when it is most treatable. Due to yourfamily history, other screening tests or prevention options may behelpful. Talk to your health professional about your risk of breastcancer, the best tests for you, and how often you should be screened.

Risk Scenario 5.

If a female subject has high familial risk for breast cancer and nopersonal history of breast cancer or ovarian cancer, and age=or >21 and<40 and has not had a clinical breast exam within the past year or hasnot had a mammogram within past year, then the following recommendationis provided:

You may benefit from breast cancer screening at a younger age than isusually recommended. Talk to your health professional about your familyhistory, how it affects your breast cancer risk, and your options forscreening and prevention.

Mammograms and clinical breast exams are screening tests that can helpdetect breast cancer early, when it is most treatable. Mammograms aremost effective and reliable when performed in women age 40 and older.Due to your family history, a mammogram at an earlier age may behelpful. There are also other ways to screen for and prevent breastcancer among women with the highest risk. Talk to your healthprofessional about your breast cancer risk, the best tests for you, andwhen and how often you should be screened.

Risk Scenario 6.

If a female subject has high familial risk for breast cancer and nopersonal history of breast cancer or ovarian cancer, and age=or >41 andhas not had mammogram within past year, then the followingrecommendation is provided:

Schedule breast cancer screening today. Talk to your health professionalabout your family history, how it affects your breast cancer risk, andyour options for screening and prevention.

Mammograms and clinical breast exams are screening tests that helpdetect breast cancer early, when it is most treatable. There are alsoother ways to screen for and prevent breast cancer among women with thehighest risk. Talk to your health professional about your risk of breastcancer, the best tests for you, and how often you should be screened.

The following four risk scenarios can occur if a subject has hadscreenings:

Risk Scenario 1.

If a female subject has moderate familial risk for breast cancer and nopersonal history of breast cancer or ovarian cancer, and age=21 and hashad clinical breast exam or mammogram within the past year, or userage=22 or <40 and has had clinical breast exam or mammogram within past1 to 2 years, then the following recommendation is provided:

Continue breast cancer screening. Talk to your health professional aboutyour family history, how it affects your breast cancer risk, and youroptions for screening and prevention.

Clinical breast exams and mammograms are screening tests that can helpdetect breast cancer early, when it is most treatable. Mammograms aremost effective and reliable when performed in women age 40 and older.Due to your family history, a mammogram at an earlier age or anothertype of screening test or prevention option may be helpful. Talk to yourhealth professional about your risk of breast cancer, the best tests foryou, and how often you should be screened.

Risk Scenario 2.

If a female subject has moderate familial risk for breast cancer and nopersonal history of breast cancer or ovarian cancer, and age=or >41 andhas had mammogram within past year, then the following recommendation isprovided:

Continue breast cancer screening. Talk to your health professional aboutyour family history, how it affects your breast cancer risk, and youroptions for screening and prevention.

Mammograms and clinical breast exams are screening tests that can helpdetect breast cancer early, when it is most treatable. Due to yourfamily history, other screening tests or prevention options may behelpful. Talk to your health professional about your risk of breastcancer, the best tests for you, and how often you should be screened.

Risk Scenario 3.

If a female subject has high familial risk for breast cancer and nopersonal history of breast cancer or ovarian cancer, and age=or >21 and<40 and has had clinical breast exam within the past year or has hadmammogram within past year, then the following recommendation isprovided:

Continue breast cancer screening. Talk to your health professional aboutyour family history, how it affects your breast cancer risk, and youroptions for screening and prevention.

Mammograms and clinical breast exams are screening tests that can helpdetect breast cancer early, when it is most treatable. Mammograms aremost effective and reliable when performed in women age 40 and older.Due to your family history, a mammogram at an earlier age may behelpful. There are also other ways to screen for and prevent breastcancer among women with the highest risk. Talk to your healthprofessional about your risk of breast cancer, the best tests for you,and how often you should be screened.

Risk Scenario 4.

If a female subject has high familial risk for breast cancer and nopersonal history of breast cancer or ovarian cancer, and age=or >41 andhas had mammogram within past year, then the following recommendation isprovided:

Continue breast cancer screening. Talk to your health professional aboutyour family history, how it affects your breast cancer risk, and youroptions for screening and prevention.

Mammograms and clinical breast exams are screening tests that can helpdetect breast cancer early, when it is most treatable. There are alsoother ways to screen for and prevent breast cancer among women with thehighest risk. Talk to your health professional about your risk of breastcancer, the best tests for you, and how often you should be screened.

Example 30 Exemplary Ovarian Cancer Disease Prevention Recommendations

An exemplary disease prevention plan (according to system 3600) based onfamilial risk assessment is shown below. The following risk scenariosare examples of exemplary disease prevention plan recommendations basedovarian familial risk assessment. The following two risk scenarios canoccur if a female subject has not had screenings.

Risk Scenario 1.

If a female subject has a moderate familial risk for ovarian cancer andage=or >20 and no personal history of ovarian cancer or breast cancer,then the following recommendation is provided:

Screening tests are sometimes offered to women with an increased risk ofovarian cancer. Talk to your health professional about your familyhistory, how it affects your ovarian cancer risk, and your options forscreening and prevention.

Available tests for ovarian cancer screening include a blood test calledCA-125 and ultrasound of the ovaries. These tests can be used alone orin combination. Talk to your health professional about your risk ofovarian cancer, the benefits and limits of the available tests, andwhich prevention and screening options are best for you.

Risk Scenario 2.

If a female subject has a high familial risk for ovarian cancer andage=or >20 and no personal history of ovarian cancer or breast cancer,then the following recommendation is provided:

Screening tests are sometimes offered to women with an increased risk ofovarian cancer. Talk to your health professional about your familyhistory, how it affects your ovarian cancer risk, and your options forscreening and prevention.

Available tests for ovarian cancer screening include a blood test calledCA-125 and ultrasound of the ovaries. These tests can be used alone orin combination. Because your family history is a strong risk factor forovarian cancer, these tests may be recommended. Talk to your healthprofessional about your risk of ovarian cancer, the benefits and limitsof the available tests, and which prevention and screening options arebest for you.

Example 31 Exemplary Colon Cancer Disease Prevention Recommendations

An exemplary disease prevention plan (according to system 3600) based oncolon cancer familial risk assessment and screening questions is shownbelow. Screening questions can include the following questions:

1) A fecal occult blood test (“FOBT”) is a test kit that you receivefrom your health professional. At home, you put a small piece of stoolon a test card. You do this for three bowel movements in a row. Then youreturn the test cards to the health professional or lab. The stoolsamples are checked for blood. Have you had a fecal occult blood test?_(——————) Never_(——————) Yes, within the past year_(——————) Yes, 1 to 2 years ago_(——————) Yes, 3 to 5 years ago_(——————) Yes, 6 to 10 years ago_(——————) Yes, more than 10 years ago_(——————) Don't know/Not sure2) A colonoscopy is an examination that checks the entire colon. A tubeis inserted in the rectum to view the bowel for signs of cancer or otherhealth problems. Heavy sedation or pain medication usually is required.Have you had a colonoscopy?_(——————) Never_(——————) Yes, within the past year_(——————) Yes, 1 to 2 years ago_(——————) Yes, 3 to 5 years ago_(——————) Yes, 6 to 10 years ago_(——————) Yes, more than 10 years ago_(——————) Don't know/Not sure3) A sigmoidoscopy is an examination that checks the lower part of thecolon. A tube is inserted in the rectum to view the bowel for signs ofcancer or other health problems. Heavy sedation or pain medicationusually is not required. Have you had a sigmoidoscopy?_(——————) Never_(——————) Yes, within the past year_(——————) Yes, 1 to 2 years ago_(——————) Yes, 3 to 5 years ago_(——————) Yes, 6 to 10 years ago_(——————) Yes, more than 10 years ago_(——————) Don't know/Not sure

The following risk scenarios are examples of exemplary diseaseprevention plan recommendations based on answers to the above questionsand colon cancer familial risk assessment.

The following six risk scenarios can occur if a subject has not hadscreenings.

Risk Scenario 1.

If a subject has average familial risk for colon cancer and age=51 andhas not had FOBT or sigmoidoscopy or colonoscopy within past year; orage=52 and has not had FOBT within past year, or sigmoidoscopy orcolonoscopy; or within past 1 to 2 years; or age=53 and has not had FOBTwithin past year, or sigmoidoscopy or colonoscopy within past 3 to 5years; or age=54 and has not had FOBT within past year, or sigmoidoscopyor colonoscopy within past 3 to 5 years; or age=55 and has not had FOBTwithin past year, or sigmoidoscopy or colonoscopy within past 3 to 5years; or age=56 and has not had FOBT within past year, or sigmoidoscopyin past 3 to 5 years, or colonoscopy in past 6 to 10 years; or age=57and has not had FOBT within past year, or sigmoidoscopy within past 3 to5 years, or colonoscopy within past 6 to 10 years; or age=58 and has nothad FOBT within past year, or sigmoidoscopy within past 3 to 5 years, orcolonoscopy within past 6 to 10 years; or age=59 and has not had FOBTwithin past year, or sigmoidoscopy within past 3 to 5 years, orcolonoscopy within past 6 to 10 years; or age=or >60 and has not hadFOBT within past year, or sigmoidoscopy within past 3 to 5 years, orcolonoscopy within past 6 to 10 years, then the following recommendationis provided:

Schedule a colon cancer screening test today.

Colon cancer screening can help find colon cancer early, when it is mosttreatable. It also can detect polyps (small growths), which can beremoved to prevent colon cancer. Colon cancer screening can involve ahome stool test kit, sigmoidoscopy, double-contrast barium enema, and/orcolonoscopy. These tests can be done alone or in combination. Usually, ahome stool test is done every year, sigmoidoscopy at least every 5years, double-contrast barium enema at least every 5 years, andcolonoscopy at least every 10 years. Talk to your health professionalabout your risk of colon cancer, the tests that are best for you, andwhen and how often you should be screened.

Risk Scenario 2.

If a subject has moderate familial risk for colon cancer and no personalhistory of colon cancer and age=20 and <41, then the followingrecommendation is provided:

You may benefit from colon cancer screening tests at a younger age thanusually is recommended. Talk to your health professional about yourfamily history, how it affects your colon cancer risk, and your optionsfor screening and prevention.

Colon cancer screening can help find colon cancer early, when it is mosttreatable. It also can detect polyps (small growths), which can beremoved to prevent colon cancer. Colon cancer screening tests include: ahome stool test kit, sigmoidoscopy, double-contrast barium enema, and/orcolonoscopy. These tests can be done alone or in combination, and areusually recommended for people aged 50 and older. However, people withan increased risk due to family history often start testing at age 40.Usually, a home stool test is done every year, sigmoidoscopy at leastevery 5 years, double-contrast barium enema at least every 5 years, andcolonoscopy at least every 10 years. Talk to your health professionalabout your risk of colon cancer, the tests that are best for you, andwhen and how often you should be screened.

Risk Scenario 3.

If a subject has moderate familial risk for colon cancer and no personalhistory of colon cancer and age=41 and has not had FOBT or sigmoidoscopyor colonoscopy within past year; or age=42 and has not had FOBT withinpast year, or sigmoidoscopy or colonoscopy within past 1 to 2 years; orage=43 and has not had FOBT within past year, or sigmoidoscopy orcolonoscopy within past 3 to 5 years; or age=44 and has not had FOBTwithin past year, or sigmoidoscopy or colonoscopy within past 3 to 5years; or age=45 and has not had FOBT within past year, or sigmoidoscopyor colonoscopy in past 3 to 5 years; or age=46 and has not had FOBTwithin past year, or sigmoidoscopy within past 3 to 5 years, orcolonoscopy within past 6 to 10 years; or age=47 and has not had FOBTwithin past year, or sigmoidoscopy within past 3 to 5 years, orcolonoscopy in past 6 to 10 years; or

age=48 and has not had FOBT within past year, or sigmoidoscopy withinpast 3 to 5 years, or colonoscopy within past 6 to 10 years; or age=49and has not had FOBT within past year, or sigmoidoscopy within past 3 to5 years, or colonoscopy within past 6 to 10 years, then the followingrecommendation is provided:

You may benefit from colon cancer screening tests at a younger age thanusually is recommended. Talk to your health professional about yourfamily history, how it affects your colon cancer risk, and your optionsfor screening and prevention.

Colon cancer screening can help find colon cancer early, when it is mosttreatable. It also can detect polyps (small growths), which can beremoved to prevent colon cancer. Colon cancer screening tests include: ahome stool test kit, sigmoidoscopy, double-contrast barium enema, and/orcolonoscopy. These tests can be done alone or in combination, and areusually recommended for people aged 50 and older. However, people withan increased risk due to family history often start testing at age 40.Usually, a home stool test is done every year, sigmoidoscopy at leastevery 5 years, double-contrast barium enema at least every 5 years, andcolonoscopy at least every 10 years. Talk to your health professionalabout your risk of colon cancer, the tests that are best for you, andwhen and how often you should be screened.

Risk Scenario 4.

If a subject has moderate familial risk for colon cancer and no personalhistory of colon cancer and their age=or >50 and has not had FOBT withinpast year, or sigmoidoscopy within past 3 to 5 years, or colonoscopywithin past 6 to 10 years then the following recommendation is provided:

Schedule a colon cancer screening test today. Talk to your healthprofessional about your family history, how it affects your colon cancerrisk, and your options for screening and prevention.

Colon cancer screening can help find colon cancer early, when it is mosttreatable. It also can detect polyps (small growths), which can beremoved to prevent colon cancer. Colon cancer screening tests include: ahome stool test kit, sigmoidoscopy, double-contrast barium enema, and/orcolonoscopy. These tests can be done alone or in combination and areusually recommended for people aged 50 and older. Usually, a home stooltest is done every year, sigmoidoscopy at least every 5 years,double-contrast barium enema at least every 5 years, and colonoscopy atleast every 10 years. Talk to your health professional about your riskof colon cancer, the tests that are best for you, and how often youshould be screened.

Risk Scenario 5.

If a subject has high (e.g., strong) familial risk for colon cancer andno personal history of colon cancer and age=20 to 30, then the followingrecommendation is provided:

You may benefit from colon cancer screening tests at a younger age thanusually is recommended. Talk to your health professional about yourfamily history, how it affects your colon cancer risk, and your optionsfor screening and prevention.

Colon cancer screening can help find colon cancer early, when it is mosttreatable. It also can detect polyps (small growths), which can beremoved to prevent colon cancer. Because of your high risk, colonoscopymay be the best screening test for you. Other screening tests include ahome stool test kit, sigmoidoscopy, and double-contrast barium enema.While colon cancer screening is usually recommended for people aged 50and older, people with an increased risk due to family history oftenstart testing at age 40, and families with the highest risk sometimesstart testing as early as age 20 to 30. Talk to your health professionalabout your risk of colon cancer, the tests that are best for you, andwhen and how often you should be screened.

Risk Scenario 6.

If a subject has high (e.g., strong) familial risk for colon cancer andno personal history of colon cancer and age=31 and has not hadcolonoscopy within past year; or age=32 and has not had colonoscopywithin past 1 to 2 years; or age=33 and has not had colonoscopy withinpast 3 to 5 years; or age=34 and has not had colonoscopy within past 3to 5 years; or age=or >35 and has not had colonoscopy within past 3 to 5years, then the following recommendation is provided:

You may benefit from colon cancer screening tests at a younger age thanusually is recommended. Talk to your health professional about yourfamily history, how it affects your colon cancer risk, and your optionsfor screening and prevention.

Colon cancer screening can help find colon cancer early, when it is mosttreatable. It also can detect polyps (small growths), which can beremoved to prevent colon cancer. Because of your high risk, colonoscopymay be the best screening test for you. Other screening tests include ahome stool test kit, sigmoidoscopy, and double-contrast barium enema.While colon cancer screening is usually recommended for people aged 50and older, people with increased risk due to family history often starttesting at age 40, and families with the highest risk sometimes starttesting as early as age 20 to 30. Talk to your health professional aboutyour risk of colon cancer, the tests that are best for you, and when andhow often you should be screened.

The following two risk scenarios can occur if a subject has hadscreenings.

Risk Scenario 1.

If a subject has moderate familial risk for colon cancer and no personalhistory of colon cancer, and age=41 and has had FOBT or sigmoidoscopy orcolonoscopy within past year; or age=42 and has had FOBT within pastyear, or sigmoidoscopy or colonoscopy within past 1 to 2 years; orage=43 and has had FOBT within past year, or sigmoidoscopy orcolonoscopy within past 3 to 5 years; or age=44 and has had FOBT withinpast year, or sigmoidoscopy or colonoscopy within past 3 to 5 years; orage=45 and has had FOBT within past year, or sigmoidoscopy orcolonoscopy within past 3 to 5 years; or age=46 and has had FOBT withinpast year, or sigmoidoscopy within past 3 to 5 years, or colonoscopywithin past 6 to 10 years; or age=47 and has had FOBT within past year,or sigmoidoscopy within past 3 to 5 years, or colonoscopy within past 6to 10 years; or age=48 and has had FOBT within past year, orsigmoidoscopy within past 3 to 5 years, or colonoscopy within past 6 to10 years; or age=49 and has had FOBT within past year, or sigmoidoscopywithin past 3 to 5 years, or colonoscopy within past 6 to 10 years; orage=or >50 and has had FOBT within past year, or sigmoidoscopy withinpast 3 to 5 years, or colonoscopy within past 6 to 10 years, then thefollowing recommendation is provided:

Continue colon cancer screening. Talk to your health professional aboutyour family history, how it affects your colon cancer risk, and youroptions for screening and prevention.

Colon cancer screening can help find colon cancer early, when it is mosttreatable. It also can detect polyps (small growths), which can beremoved to prevent colon cancer. Colon cancer screening tests include: ahome stool test kit, sigmoidoscopy, double-contrast barium enema, and/orcolonoscopy. These tests can be done alone or in combination, and areusually recommended for people aged 50 and older. However, people withan increased risk due to family history often start testing at age 40.Usually, a home stool test is done every year, sigmoidoscopy at leastevery 5 years, double-contrast barium enema at least every 5 years, andcolonoscopy at least every 10 years. Talk to your health professionalabout your risk of colon cancer, the screening tests that are best foryou, and how often you should be screened.

Risk Scenario 2.

If a subject has high (e.g., strong) familial risk for colon cancer andno personal history of colon cancer, and age=31 and has had colonoscopywithin past year; or age=32 and has had colonoscopy within past 1 to 2years; or age=33 and has had colonoscopy within past 3 to 5 years; orage=34 and has had colonoscopy within past 3 to 5 years; or age=or >35and has had colonoscopy within past 3 to 5 years, then the followingrecommendation is provided:

Continue colon cancer screening. Talk to your health professional aboutyour family history, how it affects your colon cancer risk, and youroptions for screening and prevention.

Colon cancer screening can help find colon cancer early, when it is mosttreatable. It also can detect polyps (small growths), which can beremoved to prevent colon cancer. Because of your high risk, colonoscopymay be the best screening test for you. Other screening tests include ahome stool test kit, sigmoidoscopy, and double-contrast barium enema.While colon cancer screening is usually recommended for people aged 50and older, people with increased risk due to family history often starttesting at age 40, and families with the highest risk sometimes starttesting as early as age 20 to 30. Talk to your health professional aboutyour risk of colon cancer, the screening tests that are best for you,and how often you should be screened.

Example 32 Exemplary Coronary Heart Disease and Stroke PreventionRecommendations

An exemplary disease prevention plan (according to system 3600) based oncoronary heart disease and/or stroke familial risk assessment andscreening questions is shown below. A blood cholesterol screeningquestion can include the following question:

1) Blood cholesterol is a fatty substance found in the blood. Have youhad your blood cholesterol checked by a health professional?

_(——————) Never

_(——————) Yes, within the past year

_(——————) Yes, 1 to 2 years ago

_(——————) Yes, 3 to 5 years ago

_(——————) Yes, 6 to 10 years ago

_(——————) Yes, more than 10 years ago

_(——————) Don't know/Not sure

The following three risk scenarios can occur if a subject has not hadscreenings.

Risk Scenario 1.

If a subject is a woman and has weak familial risk for coronary arterydisease and stroke, and age=or >46 and has not had cholesterol testwithin the past year; or age=47 and has not had cholesterol tested inthe past 2 years; or age=48 and has not had cholesterol tested in past 3years; or age=49 and has not had cholesterol tested in past 4 years; orage=or >50 and has not had cholesterol tested in past 5 years, then thefollowing recommendation is provided:

Get your cholesterol tested.

Your cholesterol testing should include a measure of your totalcholesterol, low density lipoprotein (the “bad” cholesterol), highdensity lipoprotein (the “good” cholesterol), and triglycerides. If yourcholesterol levels are high or abnormal, changing your lifestyle and/ortaking medication can reduce your risk of coronary heart disease andstroke. Ask your health professional how often you should test yourcholesterol. This will depend on your cholesterol levels, other riskfactors, and if you already are being treated for cholesterol problems.

Risk Scenario 2.

If a subject is a man and has low (e.g., weak) familial risk forcoronary artery disease and stroke, and age=or >36 and has not hadcholesterol test within past year; or age=37 and has not had cholesteroltested in past 2 years; or age=38 and has not had cholesterol tested inpast 3 years; or age=39 and has not had cholesterol tested in past 4years; or age=or >40 and has not had cholesterol tested in past 5 years,then the following recommendation is provided:

Get your cholesterol tested.

Your cholesterol testing should include a measure of your totalcholesterol, low density lipoprotein (the “bad” cholesterol), highdensity lipoprotein (the “good” cholesterol), and triglycerides. If yourcholesterol levels are high or abnormal, changing your lifestyle and/ortaking medication can reduce your risk of coronary heart disease andstroke. Ask your health professional how often you should test yourcholesterol. This will depend on your cholesterol levels, other riskfactors, and if you already are being treated for cholesterol problems.

Risk Scenario 3.

If a subject has moderate or high (e.g., strong) familial risk forcoronary heart disease or stroke and no personal history of coronaryheart disease, stroke or diabetes, and age=21 and has not hadcholesterol test within the past year; or age=22 and has not hadcholesterol test within past 1 to 2 years; or age=23 and has not hadcholesterol test within past 2 to 5 years; or age=24 and has not hadcholesterol test within past 2 to 5 years; or age=or >25 and has not hadcholesterol test within past 5 years, then the following recommendationis provided:

Get your cholesterol tested. Talk to your health professional about yourfamily history, how it affects your risk of coronary heart disease orstroke, and your options for screening and prevention.

Your cholesterol testing should include a measure of your totalcholesterol, low density lipoprotein (the “bad” cholesterol), highdensity lipoprotein (the “good” cholesterol), and triglycerides. If yourcholesterol levels are high or abnormal, changing your lifestyle and/ortaking medication can reduce your risk of coronary heart disease andstroke. Due to your increased risk, you may need to test for othercardiovascular risk factors. Ask your health professional how often youshould test your cholesterol. This will depend on your cholesterollevels, other risk factors, and if you already are being treated forcholesterol problems.

The following risk scenario can occur if a subject has had cholesterolscreenings.

Risk Scenario 1.

If a subject has moderate or high (e.g., strong) familial risk forcoronary heart disease or stroke and no personal history of coronaryheart disease, stroke or diabetes, and age=21 and has had cholesteroltest in past year; or age=22 and has had cholesterol test in past 2years; or age=23 and has had cholesterol test in past 3 years; or age=24and has had cholesterol test in past 4 years; or age=or >25 and has hadcholesterol test in past 5 years, then the following recommendation isprovided:

Continue cholesterol testing. Talk to your health professional aboutyour family history, how it affects your risk of <coronary heart diseaseor stroke>, and your options for screening and prevention.

Your cholesterol testing should include a measure of your totalcholesterol, low density lipoprotein (the “bad” cholesterol), highdensity lipoprotein (the “good” cholesterol), and triglycerides. If yourcholesterol levels are high or abnormal, changing your lifestyle and/ortaking medication can reduce your risk of coronary heart disease andstroke. Due to your increased risk, you may need to test for othercardiovascular risk factors. Ask your health professional how often youshould test your cholesterol. This will depend on your cholesterollevels, other risk factors, and if you already are being treated forcholesterol problems.

Similarly, a blood screening question can include the followingquestion:

1) Have you had your blood pressure checked by a health professional?

_(——————) Never

_(——————) Yes, within the past year

_(——————) Yes, 1 to 2 years ago

_(——————) Yes, 3 to 5 years ago

_(——————) Yes, 6 to 10 years ago

_(——————) Yes, more than 10 years ago

_(——————) Don't know/Not sure

The following two risk scenarios can occur if a subject has had bloodpressure screening:

Risk Scenario 1.

If a subject has low (e.g., weak) familial risk for coronary heartdisease and stroke, and has not had blood pressure checked in past year,and age=or >19, then the following recommendation is provided:

Get your blood pressure checked.

If your blood pressure is high, changing your lifestyle and/or takingmedication can lower your blood pressure and reduce your risk ofcoronary heart disease and stroke. Ask your health professional howoften you should check your blood pressure. This will depend on yourblood pressure levels, other health problems, and if you already arebeing treated for high blood pressure.

Risk Scenario 2.

If a subject has moderate or high (e.g., strong) familial risk forcoronary heart disease or stroke and has no personal history of coronaryheart disease, stroke or diabetes, and has not had blood pressurechecked in past year, and age=or >19, then the following recommendationis provided:

Get your blood pressure checked. Talk to your health professional aboutyour family history, how it affects your risk of <coronary heart diseaseor stroke>, and your options for screening and prevention.

If your blood pressure is high, changing your lifestyle and/or takingmedication can lower your blood pressure and reduce your risk ofcoronary heart disease and stroke. Ask your health professional howoften you should check your blood pressure. This will depend on yourblood pressure levels, other health problems, and if you already arebeing treated for high blood pressure.

The following risk scenario can occur if a subject has had bloodpressure screening:

Risk Scenario 1.

If a subject has moderate or high (e.g., strong) familial risk forcoronary heart disease or stroke and has no personal history of coronaryheart disease, stroke and diabetes, and has had blood pressure checkedin past year, and age=or >19, then the following recommendation isprovided:

Continue to check your blood pressure. Talk to your health professionalabout your family history, how it affects your risk of <coronary heartdisease or stroke>, and your options for screening and prevention.

If your blood pressure is high, changing your lifestyle and/or takingmedication can lower your blood pressure and reduce your risk ofcoronary heart disease and stroke. Ask your health professional howoften you should check your blood pressure. This will depend on yourblood pressure levels, other health problems, and if you already arebeing treated for high blood pressure.

Example 33 Exemplary Diabetes Prevention Recommendations

An exemplary disease prevention plan (according to system 3600) based ondiabetes familial risk assessment and a screening question is shownbelow. A blood glucose screening question can include the followingquestion:

1) A blood sugar test is a blood test that looks for and measures yourblood glucose or blood sugar. Have you had your blood sugar tested by ahealth professional?

_(——————) Never

_(——————) Yes, within the past year

_(——————) Yes, 1 to 2 years ago

_(——————) Yes, 3 to 5 years ago

_(——————) Yes, 6 to 10 years ago

_(——————) Yes, more than 10 years ago

_(——————) Don't know/Not sure

The following risk scenario can occur:

Risk Scenario 1.

If a subject has moderate or high (e.g., strong) familial risk fordiabetes, coronary heart disease and/or stroke and no personal historyof diabetes, coronary heart disease or stroke, and has not had theirblood sugar tested in the past 2 years and age > or =22, then thefollowing recommendation is provided:

You may benefit from blood sugar testing because of your family history.Talk to your health professional about your blood sugar and how itaffects your risk of disease.

Elevated blood sugar is a sign of diabetes, and it can increase the riskof coronary heart disease and stroke. If you have elevated blood sugar,you can lower it by changing your lifestyle and/or taking medication. Inaddition, your health professional may closely monitor and manage othercardiovascular risk factors like blood pressure and cholesterol. Thesesteps may reduce your chances of coronary heart disease and stroke. Askyour health professional about scheduling a blood sugar test.

Example 34 Exemplary General Screening Test Recommendations Based UponFamilial Risk Assessment

Exemplary disease prevention plan (e.g. a disease prevention planaccording to system 3600) general gender-specific screening testrecommendations including when to begin and interval of screening basedon familial risk assessment are shown in Table 1. Screening testrecommendations can be further based on available guidelines (e.g.,guidelines from the U.S. Preventive Services Task Force, National CancerInstitute, National Heart, Lung and Blood Institute, American CancerSociety, and the American Hearth Association and the like). Thescreening test recommendations provided can be presented as part of acomplete overall disease prevention plan for a subject, or by one ormore diseases of interest.

TABLE 1 Screening Disease Test Risk Status RECOMMENDEDATION PROVIDEDHeart Cholesterol Average/Weak For women, screening should begin at age45 Disease with a frequency of at least every 5 years & For men,screening should begin at age 35 with Stroke a frequency of at leastevery 5 years Moderate For men and women, screening should begin at age20 with a frequency of at least every 5 years High/Strong For men andwomen, screening should begin at age 20 with a frequency of at leastevery 5 years Blood Pressure Average For men and women, screening shouldbegin at age 18 with a frequency of at least every year Moderate For menand women, screening should begin at age 18 with a frequency of at leastevery year High For men and women, screening should begin at age 18 witha frequency of at least every year Blood Glucose Average No messageModerate For men and women, screening should begin at age 20 with afrequency of at least every two years High For men and women, screeningshould begin at age 20 with a frequency of at least every two yearsDiabetes Blood Glucose Average No message Moderate For men and women,screening should begin at age 20 with a frequency of at least every twoyears High For men and women, screening should begin at age 20 with afrequency of at least every two years Breast CBE Average For womenbetween ages 20 to 40, screening Cancer MG with CBE is an optionbeginning at age 20 with a frequency of every 1-2 years. For women age40 and older, screening with mammography should begin at age 40 with afrequency of every 1-2 years. (CBE every 1 to 2 years is alsosuggested). Moderate For women between ages 20 to 40, screening with CBEand/or mammogram may be an option with a frequency of every 1-2 yearsFor women age 40 and older, screening with mammography should begin atage 40 with a frequency of every year. (CBE every 1 to 2 years is alsosuggested) High For women between ages 20 to 40, screening with CBEand/or mammography mat be an option with a frequency of every year. Forwomen age 40 and older, screening with mammography should begin at age40 with a frequency of every year. Ovarian CA-125 Average No MessageCancer Transvaginal Moderate For women beginning age at 20, discussUltrasound screening (i.e., CA125, TVUS) with health professional. HighFor women beginning at age 20, discuss screening (i.e., CA125, TVUS)with health professional Colon FOBT Average For men and women, beginscreening at age 50. Cancer Flex Sig Frequency of screening with FOBTevery year; DCBE with flexible sigmoidoscopy at least every 5Colonoscopy years; with DCBE at least every 5 years; and withcolonoscopy at least every 10 years. Moderate For men and women betweenages 20 to 40, discuss screening with health professional. For men andwomen, begin screening at age 40. Frequency of screening with FOBT everyyear; with flexible sigmoidoscopy at least every 5 years; with DCBE atleast every 5 years; and with colonoscopy at least every 10 years. HighFor men and women between ages 20 to 30, discuss screening with healthprofessional For men and women age 30 and older, begin screening withcolonoscopy at age 30 with a frequency of at least every 5 years. (Otherscreening modalities are suggested as options.)

Example 35 Exemplary General Lifestyle/Behavior Recommendations BasedUpon Familial Risk Assessment and Personal Health History

Exemplary disease prevention plan (e.g. a disease prevention planaccording to system 3600) gender and age-based lifestyle/behaviorrecommendations based on familial risk assessment and personal healthhistory are shown in Table 2. Lifestyle/Behavior recommendations can befurther based on available guidelines (e.g., guidelines from the U.S.Preventive Services Task Force, National Cancer Institute, NationalHeart, Lung and Blood Institute, American Cancer Society, and theAmerican Hearth Association and the like). The lifestyle/behaviorrecommendations provided can be presented as part of a complete overalldisease prevention plan for a subject, or by one or more diseases ofinterest.

TABLE 2 Lifestyle/ Linked to Risk Behavior Disease? StatusRECOMMENDATION PROVIDED BMI CHD, Average BMI < 18.5 Underweight- Talk todoctor stroke, BMI ≧ 25 Lose weight to reduce risk of CVD, diabetes DM,and cancer Breast CA, Moderate BMI < 18.5 Underweight- Talk to doctorColon CA or High BMI ≧ 25 Lose weight to reduce risk of <disease>. BMI =18.5 to 24.9 Maintaining weight may reduce risk of <disease>. TobaccoCHD, Average Smoker Quit smoking stroke, Moderate Smoker Quit smoking toreduce risk of <disease>. Colon CA or High Former Smoker Keep avoidingto reduce risk of <disease> Physical CHD, Average Does not Exercise (asrecommended) ↑ physical Activity stroke, activity . . . may improvehealth DM, Moderate Does not Exercise ↑ physical activity may reducerisk of Breast CA, or High <disease>. Colon CA Does Exercise Continue.May reduce risk of <disease>. 5-A-Day CHD, Average <5-a-day ↑ intake . .. may improve health (Diet) stroke, Breast CA, Colon CA Moderate<5-a-day ↑ intake . . . may reduce risk of <disease>. or High ≧5-a-dayContinue. May reduce risk of <disease>. Alcohol Colon Any Female &drinks Limit to one a day cancer, Male & drinks Limit to one or two aday breast cancer Aspirin CHD, Moderate Uses less than 3×/wk Aspirin mayreduce risk of stroke, or High <disease> . . . Talk to doctor. Colon CAUses 3 or more times a week. Asp. may reduce risk of <disease>. Talk todoctor.

Example 36 Exemplary Lifestyle/Behavior Recommendations Based UponFamilial Risk Assessment and Personal Health History

An exemplary disease prevention plan (according to system 3600) based onfamilial risk assessment and the screening questions is shown below.Body mass index (BMI) screening questions can include the followingquestions:

-   -   1) What is your current height? _(——————) feet _(——————) inches    -   2) What is your current weight (If you are pregnant, what was        your weight prior to pregnancy) ? _(——————) pounds

The following risk scenarios can occur based on familial risk fordisease and the response to the above questions:

Risk Scenario 1.

If BMI is <18.5 and if the subject has any familial risk for coronaryheart disease, stroke, diabetes, colon cancer and breast cancer, andovarian cancer, the following recommendation is provided:

You are underweight for your height. Talk to your health professionalabout your weight, and how it affects your health.

Based on your height, your ideal weight ranges from _(——————) to_(——————) pounds. Being underweight can be a sign of a health problem,especially if you have had an unplanned weight loss.

Risk Scenario 2.

If BMI is =or >25 and if the subject has weak familial risk for coronaryheart disease, stroke, diabetes, colon cancer and breast cancer, and anyfamilial risk for ovarian cancer, then the following recommendation isprovided:

Losing weight may reduce your risk of getting cardiovascular disease,diabetes and cancer, and improve your overall health.

Based on your height, your ideal weight ranges from <_(——————) to_(——————) pounds>. Even a weight loss of a few pounds can make adifference. Talk to your health professional about a nutrition andphysical activity program that is right for you.

Risk Scenario 3.

If BMI is =or >25 and if the subject has moderate or high (e.g., strong)familial risk for coronary heart disease, stroke, diabetes, colon canceror breast cancer and no personal history of coronary heart disease,stroke, diabetes, colon cancer and breast cancer, then the followingrecommendation is provided:

Losing weight may reduce your risk of getting <diseases> and improveyour overall health.

Based on your height, your ideal weight ranges from <_(——————) to_(——————) pounds>. Even a weight loss of a few pounds can make adifference. Talk to your health professional about a nutrition andphysical activity program that is right for you.

Risk Scenario 4.

If BMI=18.5 to 24.9 and if the subject has moderate or high (e.g.,strong) familial risk for coronary heart disease, stroke, diabetes,colon cancer or breast cancer and no personal history of coronary heartdisease, stroke, diabetes, colon cancer and breast cancer, then thefollowing recommendation is provided:

-   -   Your weight is appropriate for your height. Maintaining a        healthy weight may reduce your risk of <diseases> and improve        your overall health.        -   Based on your height, your ideal weight ranges from            <_(——————) to _(——————) pounds>.

Tobacco use screening questions can include the following question:

1) Do you smoke tobacco including cigarettes, a pipe, or cigars?

_(——————) Yes, I currently smoke cigarettes, a pipe, or cigars

_(——————) No, but I used to smoke

_(——————) No, I have never smoked (or I have smoked less than 100cigarettes in my lifetime)

The following risk scenarios can occur based on familial risk fordisease and the response to the above questions:

Risk Scenario 1.

If a subject smokes and has weak familial risk for coronary heartdisease, stroke, or colon cancer, and any level of familial risk fordiabetes, breast and ovarian cancer, then the following recommendationis provided:

Quit smoking. Smoking increases your risk of cardiovascular disease,lung disease, cancer, and other health problems.

(For women) If you are pregnant and smoke, quitting now will helpprevent health problems for you and your fetus. Talk to your healthprofessional about programs to help you quit. Medication and counselingcan help you quit. Make a plan and set a quit date. Tell your family,friends, and coworkers you are quitting and ask for their support.

Risk Scenario 2.

If a subject smokes and has moderate or high (e.g., strong) familialrisk for coronary heart disease, stroke, or colon cancer and no personalhistory of coronary heart disease, stroke, diabetes, or colon cancer,then the following recommendation is provided:

Quit smoking to reduce your risk of <disease(s)> and to improve youroverall health.

(For women) If you are pregnant and smoke, quitting now will helpprevent health problems for you and your fetus. Talk to your healthprofessional about programs to help you quit. Medication and counselingcan help you quit. Make a plan and set a quit date. Tell your family,friends, and coworkers you are quitting and ask for their support.

Risk Scenario 3.

If a subject is a former smoker and has moderate or high (e.g., strong)familial risk for coronary heart disease, stroke or colon cancer and nopersonal history of coronary heart disease, stroke, diabetes or coloncancer, then the following recommendation is provided:

Congratulations for quitting smoking. Keep it up.

Continue to avoid smoking to reduce your risk of <disease(s)> and toimprove your overall health. If you think you might start smoking again,ask your health professional for help.

Physical activity screening questions can include the followingquestions:

1) On average, how many times per week do you participate in physicalactivity such as running, golf, gardening, exercise classes, bicycling,swimming, walking, mowing the lawn, or dancing?

_(——————) Never

_(——————) Less than once a week

_(——————) 1 to 2 times a week

_(——————) 3 to 4 times a week

_(——————) 5 or more times a week

2) On average, how long do you do these activities each time?

_(——————) less than 10 minutes

_(——————) 10 to 19 minutes

_(——————) 20 to 29 minutes

_(——————) 30 to 39 minutes

_(——————) 40 or more minutes

The following risk scenarios can occur based on familial risk fordisease and the response to the above questions:

Risk Scenario 1.

If a subject does not participate in physical activity at least 3 timesa week and at least 20 minutes each time, and has weak familial risk forcoronary heart disease, stroke, diabetes, colon cancer and breastcancer, and any familial risk for ovarian cancer, then the followingrecommendation is provided:

Increase your physical activity. This may improve your health and reduceyour risk of cardiovascular disease, diabetes, cancer, and other healthproblems.

The ideal level of activity is at least 30 minutes of moderate activityon five or more days a week, or at least 20 minutes of vigorous activityon three or more days a week. If you need help getting more physicalactivity, ask your health professional for ideas or a referral.

Risk Scenario 2.

If a subject does not participate in physical activity at least 3 timesa week and at least 20 minutes each time, and has moderate or high(e.g., strong) familial risk for coronary heart disease, stroke,diabetes, colon cancer or breast cancer and has no personal history ofcoronary heart disease, stroke, diabetes, colon cancer and breastcancer, then the following recommendation is provided:

Increase your physical activity. This may reduce your risk of<disease(s)> and improve your overall health.

The ideal level of activity is at least 30 minutes of moderate activityon five or more days a week, or at least 20 minutes of vigorous activityon three or more days a week. If you need help getting more physicalactivity, ask your health professional for ideas or a referral.

Risk Scenario 3.

If a subject does participate in physical activity at least 3 times aweek and for at least 20 minutes each time, and has moderate or high(e.g., strong) familial risk for coronary heart disease, stroke,diabetes, colon cancer or breast cancer and no personal history ofcoronary heart disease, stroke, diabetes, colon cancer or breast cancer,then the following recommended is provided:

Keep getting regular physical activity. This may reduce your risk of<disease(s)> and improve your overall health.

The ideal level of activity is at least 30 minutes of moderate activityon five or more days a week, or at least 20 minutes of vigorous activityon three or more days a week. If you need help getting more physicalactivity, ask your health professional for ideas or a referral.

The following definitions of physical activity can also be provided withany recommendation provided:

Moderate physical activity—This level of activity generally refers tothe level of effort that a healthy person might expend while walkingbriskly, mowing the lawn, dancing, swimming, or bicycling on a flatsurface, for example. A person doing moderate physical activity willfeel some exertion, but they will still be able to talk comfortably.

Vigorous physical activity—This level of activity generally refers tothe level of effort that a healthy person might expend while jogging,mowing the lawn with a non-motorized push mower, chopping wood, swimmingcontinuous laps, or bicycling uphill, for example. A person doingvigorous physical activity will feel physically challenged and theirheart rate and breathing will increase significantly.

Dietary (e.g., 5-A-Day) screening questions can include the followingquestions:

1) On average, how many servings of fruits and vegetables do you eateach day? One serving is 1 medium piece of fruit, ½ cup fruit orvegetables (raw, cooked, canned, or frozen), 1 cup of leafy saladgreens, ¼ cup of dried fruit, ¾ cup or 6 ounces of 100% juice, ½ cupcooked peas or beans.

_(——————) None

_(——————) 1 to 2 a day

_(——————) 3 to 4 a day

_(——————) 5 to 6 a day

_(——————) 7 to 8 a day

_(——————) 8 to 9 a day

_(——————) 10 or more a day

The following risk scenarios can occur based on familial risk fordisease and the response to the above question:

Risk Scenario 1.

If a subject eats less than 5 servings of fruits and vegetables per dayand has weak familial risk for coronary heart disease, stroke, coloncancer and breast cancer, and any level of familial risk for diabetesand ovarian cancer, the following recommendation is provided:

Increase your daily intake of fruits and vegetables. This may improveyour overall health and reduce your risk for cardiovascular disease andcertain cancers.

Experts recommend eating 5 to 9 servings of fruits and vegetables a day.Try to eat a variety of different colored fruits and vegetables daily,especially darker green and yellow/orange choices. Fresh, frozen,chilled, canned, dried, and 100% fruit and vegetables juice all count.But limit or avoid fruits or vegetables that are high in added fat,sugar or salt, If you need help adding more fruits and vegetables toyour diet, ask your health professional for ideas or a referral.

Risk Scenario 2.

If a subject eats less than 5 servings of fruits and vegetables per dayand has moderate or high (e.g., strong) familial risk for coronary heartdisease, stroke, colon cancer or breast cancer and no personal historyof coronary heart disease, stroke, colon cancer and breast cancer, thenthe following recommendation is provided:

Increase your daily intake of fruits and vegetables. This may reduceyour risk of <disease(s)> and improve your overall health.

Experts recommend eating 5 to 9 servings of fruits and vegetables a day.Try to eat a variety of different colored fruits and vegetables daily,especially darker green and yellow/orange choices. Fresh, frozen,chilled, canned, dried, and 100% fruit and vegetables juice all count.But limit or avoid fruits or vegetables that are high in added fat,sugar or salt, If you need help adding more fruits and vegetables toyour diet, ask your health professional for ideas or a referral.

Risk Scenario 3.

If a subject eats more than 5 servings of fruits and vegetables per dayand has moderate or high familial risk for coronary heart disease,stroke, colon cancer or breast cancer and has no personal history ofcoronary heart disease, stroke, colon cancer and breast cancer, then thefollowing recommendation is provided:

Continue to eat 5 to 9 servings of fruits and vegetables a day. This mayreduce your risk of <disease(s)> and improve your overall health.

Experts recommend eating 5 to 9 servings of fruits and vegetables a day.Try to eat a variety of different colored fruits and vegetables daily,especially darker green and yellow/orange choices. Fresh, frozen,chilled, canned, dried, and 100% fruit and vegetables juice all count.But limit or avoid fruits or vegetables that are high in added fat,sugar or salt, If you need help adding more fruits and vegetables toyour diet, ask your health professional for ideas or a referral.

Alcohol screening questions can include the following question:

1) During the past month, did you drink one or more alcoholic beverages?

A standard drink is one 12-ounce bottle or can of beer or wine cooler,one 5-ounce glass of wine, or 1.5 ounces (one shot) of 80-proofdistilled spirits.

_(——————) Yes

_(——————) No

_(——————) Don't know/Not sure

The following risk scenarios can occur based on familial risk fordisease and the response to the above question:

Risk Scenario 1.

If a subject drinks alcoholic beverages or don't know/not sure and is afemale who has weak familial risk for colon cancer and breast cancer,and any level of risk for coronary heart disease, stroke, diabetes andovarian cancer, and user drinks alcoholic beverages, then the followingrecommendation is provided:

Limit your alcohol intake to no more than one drink a day.

Don't drink while you are pregnant. or if you are trying to becomepregnant, because alcohol may harm the development of your fetus. Don'tdrink any alcohol if you have a history of alcoholism or are takingmedications that may interact with alcohol. Talk to your healthprofessional if you have questions about alcohol and how it affects yourhealth, or if you have trouble limiting your alcohol intake.

Risk Scenario 2.

If a subject drinks alcoholic beverages and is a female who has moderateor high (e.g., strong) familial risk for colon cancer or breast cancerand no personal history of colon cancer and breast cancer, and userdrinks alcoholic beverages, then the following recommendation isprovided:

Limit your alcohol intake to no more than one drink a day. This mayreduce your risk of getting <breast cancer and/or colon cancer>.

Don't drink while you are pregnant, or if you are trying to becomepregnant, because alcohol may harm the development of your fetus. Don'tdrink any alcohol if you have a history of alcoholism or are takingmedications that may interact with alcohol. Talk to your healthprofessional if you have questions about alcohol and how it affects yourhealth, or if you have trouble limiting your alcohol intake.

Risk Scenario 3.

If a subject drinks alcoholic beverages, and is a male who has moderatefamilial risk for colon cancer, or any level of risk for coronary heartdisease, stroke, diabetes, breast cancer or ovarian cancer, and userdrinks alcoholic beverages, then the following recommendation isprovided:

Limit your alcohol intake to no more than one or two drinks a day.

Don't drink any alcohol if you have a history of alcoholism or aretaking medications that may interact with alcohol. Talk to your healthprofessional if you have questions about alcohol and how it affects yourhealth, or if you have trouble limiting your alcohol intake.

Risk Scenario 4.

If a subject drinks alcoholic beverages, and is a male who has moderateor high (e.g., strong) familial risk for colon cancer and no personalhistory of colon cancer and breast cancer, then the followingrecommendation is provided:

Limit your alcohol intake to no more than one or two drinks a day. Thismay reduce your risk of getting colon cancer.

Don't drink any alcohol if you have a history of alcoholism or aretaking medications that may interact with alcohol. Talk to your healthprofessional if you have questions about alcohol and how it affects yourhealth, or if you have trouble limiting your alcohol intake.

Aspirin screening questions can include the following question:

1) On average, how many days per week do you currently take aspirin?.

Do not include other pain relief medication.

_(——————) None

_(——————) 1 day

_(——————) 2 days

_(——————) 3 days

_(——————) 4 days

_(——————) 5 days

_(——————) 6 days

_(——————) 7 days

The following risk scenarios can occur based on familial risk fordisease and the response to the above question:

Risk Scenario 1.

If a subject does not use aspirin 3 or more days a week, and hasmoderate or high (e.g., strong) familial risk for coronary heartdisease, stroke or colon cancer, and has no personal history of coronaryheart disease, stroke, diabetes and colon cancer, then the followingrecommendation is provided:

Talk to your health professional about the benefits and risk of aspirin.

Aspirin use may reduce your risk of <disease(s)>. However, aspirin usemay have risks such as bruising more easily and bleeding from thegastrointestinal tract. If you are allergic to aspirin, you should nottake it. Talk to your health professional about the possible benefitsand risks of aspirin therapy. If you are taking other medications, askyour health professional if there are any harmful interactions withaspirin.

Risk Scenario 2.

If a subject uses aspirin at least 3 days a week, and has moderate orhigh (e.g., strong) familial risk for coronary heart disease, stroke orcolon cancer and no personal history of coronary heart disease, then thefollowing recommendation is provided:

If you have not already, talk to your health professional about thebenefits and risk of aspirin therapy.

Aspirin therapy may reduce your risk of <disease(s)>. However, aspirinuse may have risks such as bruising more easily and bleeding from thegastrointestinal tract. If you are allergic to aspirin, you should nottake it. Talk to your health professional about the possible benefitsand risks of aspirin therapy. If you are taking other medications, askyour health professional if there are any harmful interactions withaspirin.

Example 37 Exemplary Implementation of a Computer-Implemented Method forBoth Determining the Familial Risk of One or More Disease of Interestand Determining a Disease Prevention Plan for a Subject

FIGS. 38-58 are screen shots from an exemplary implementation of acomputer-implemented method (e.g., an Internet based interactive method)for both determining the familial risk of one or more diseases ofinterest in a subject and determining a disease prevention plan for asubject. Such a technique can be used to collect and present informationfor use in any of the examples, herein. In practice, any one or more ofthe screen shots can be omitted, resulting in an abbreviated version ofthe exemplary implementation.

FIG. 37 is a screen shot 3700 of an opening page of thecomputer-implemented method. New users (e.g., subjects) can begin a newprofile (e.g. health record), returning users can login to theirpassword protected user profile. Additional background and informationalmaterials are accessible via the opening page.

FIG. 38 is a screen shot 3800 of a page of the computer-implementedmethod for setting a user name and password in the creation of a newhealth record for a subject.

FIG. 39 is a screen shot 3900 of a personal information page of thecomputer-implemented method for inputting (e.g., collecting) personalinformation about the subject. For example, name, date of birth, gender,adoption status, ethnicity, and the like can be collected.

FIG. 40 is a screen shot 4000 of a personal health history page of thecomputer-implemented method for inputting (e.g., collecting) personalhealth history information about the subject. For example, height,weight and disease status of common chronic diseases (e.g., coronaryheart disease, stroke, diabetes, colon cancer, breast cancer, andovarian cancer) can be collected.

FIG. 41 is a screen shot 4100 of a personal health behaviors page of thecomputer-implemented method for inputting (e.g., collecting) personalhealth behavior information about the subject. For example, smokingstatus, physical activity regularity, dietary information, and the likecan be collected.

FIG. 42 is a screen shot 4200 of a screening test page of thecomputer-implemented method for inputting (e.g., collecting) personalhealth history information about the subject. For example, informationabout screening exams include information about clinical breast exams,mammograms, fecal occult blood tests, sigmoidoscopies, colonoscopies,blood cholesterol tests, blood pressure tests, and blood sugar tests.

FIG. 43. is a screen shot 4300 of a page of the computer-implementedmethod for changing the user name and password for accessing a healthrecord for a subject.

FIG. 44 is a screen shot 4400 of a family tree creation test page of thecomputer-implement method for inputting (e.g., collecting) family healthhistory information for the subject's relatives. For example, the numberof first and second degree relatives can be collected.

FIG. 45 is a screen shot 4500 of a family member page of thecomputer-implemented method for inputting (e.g., collecting) familyhealth history information for a selected family member. For example,information about whether or not the selected family member ever had oneor more disease of interest (e.g., coronary heart disease, stroke,diabetes, colon cancer, breast cancer, and/or ovarian cancer) iscollected.

FIG. 46 is a screen shot 4600 showing an exemplary example ofinformation input in the family history page of FIG. 45. For example,the options related to whether or not the selected family member (e.g.,My Mother, “Paula”) ever had coronary heart disease is shown as part ofa drop-down selection tool with the option, “Yes,” and Age at firstdiagnosis at “20 to 24” selected.

FIG. 47 is a screen shot 4700 showing an exemplary example of acompleted information input page for the selected family member of FIG.46. In, practice, “Yes,” “No,” or “Don't Know” can be selected for anyof the diseases, with an age at first diagnosis if “Yes” is selected.

FIG. 48 is a screen shot 4800 showing an exemplary example of thecomputer-implemented method for inputting (e.g., collecting) familyhealth history information for another family member by adding thefamily member to the family health history records.

FIG. 49 is as screen shot 4900 showing an exemplary example ofinformation input in the family health history profile of FIG. 48. Forexample, information about the new family member “Ed” or “my Father'sBrother,” (i.e. the subject's uncle) can be input.

FIG. 50 is a screen shot 5000 showing an exemplary example of aconfirmation pop-up warning confirming the desire to delete a relative'sfamily health history profile from the health records.

FIG. 51 is a screen shot 5100 showing an exemplary example of a glossarypop-up information guide accessible via a link of the selected diseaseof interest on the input page. For example, stroke was selected toaccess more information about stroke to help a user learn about thedisease prior to inputting information about whether a relative had theselected disease or not.

FIG. 52 is a screen shot 5200 showing an exemplary example of a welcomeback page that allows the subject or user the opportunity to review,edit, update or delete information in the health records. For example,such a page can be useful for allowing the continuous updating and useof the technology.

FIG. 53 is a screen shot 5300 showing an exemplary example of a reporthome page after the familial risk assessor has completed its assessmentof risk and developed a personalized disease prevention plan.

FIG. 54 is a screen shot 5400 showing an exemplary pedigree display(e.g., a family tree picture) page showing family disease history for asubject based on familial health records. In the example, an indication(e.g., legend) can be included to indicate that circles representfemales and squares represent males.

FIG. 55 is a screen shot 5500 showing an exemplary familial riskassessment page for disease based on family health history. In theexample, a risk assessment category (e.g., strong, medium, or weak) isdisplayed as a metric for the diseases.

FIG. 56 is a screen shot 5600 showing the familial risk assessment page(e.g., similar to that of FIG. 55) with a pop-up familial risk clarifierfurther clarifying and indicating the risk assessment categoriesassigned.

FIG. 57 is a screen shot 5700 showing a disease prevention plan pagespecific to a disease of interest (e.g., coronary heart disease) basedon familial health risk assessment and personal health history. In theexample, recommendations are included. For example, screening tests andhealth behavior modifications can be recommended based on familialhealth risk assessment and personal health history.

FIG. 58 is a screen shot 5800 showing a popup window that expounds upona phrase (e.g., “continue cholesterol testing”) when a hyperlink in theplan for the phrase is activated (e.g., clicked on).

Example 38 Another Exemplary Implementation of a Computer-ImplementedMethod for Both Determining the Familial Risk of One or More Disease ofInterest and Determining a Disease Prevention Plan for a Subject

An exemplary personalized disease prevention plan from an anotherexemplary implementation of a computer-implemented method (e.g., anInternet based interactive method) for both determining the familialrisk of one or more diseases of interest in a subject and determining adisease prevention plan for a subject are shown below for a test caseanonymously named “Two, Case.”. Such a technique can be used to collectand present information for use in any of the examples, herein.

The plan can be displayed as pages in a web browser or printed out forlater use. The underlined phrases shown therein can serve as hyperlinksto other places in the plan (e.g., to a location in the plan thatexpounds upon the underlined phrase). The underlined phrases showntherein can alternatively serve as hyperlinks to external web pages.

Name: Two, Case DOB: Jul. 6, 1935 Prepared On: Jan. 13, 2006

Thank you for using Family Healthware. Remember these important points:

-   -   Know your family history. It's one of the most important risk        factors for the six diseases in this tool.    -   Understand that many factors influence your risk. A weak family        history does not mean you won't get disease. And, a strong        family history does not mean you will get disease. Other factors        including your lifestyle, overall health and environment can        influence your risk.    -   Talk to your health professional about your report. He or she is        the best person to review the findings and discuss how to        improve your health and reduce your risk for disease.    -   Discuss family history with your family. Your family history is        shared by your family members. What you learned may help them.    -   Keep family history accurate and up to date. Try to confirm your        family history, as the accuracy affects your risk rating. Update        your family history every 1 to 2 years, and if you learn about        changes.        <new page>        Name: Two, Case DOB: Jul. 6, 1935 Prepared On: Jan. 13, 2006        The impact of your family history on Coronary Heart Disease risk        is: STRONG

Why your family history is a risk factor:

-   -   Three or more closely related family members with coronary heart        disease.        The following can help reduce your overall risk:        Screening Tests    -   Continue testing your blood sugar.    -   Continue to check your blood pressure.    -   Continue cholesterol testing.        Lifestyle Changes    -   Maintain a healthy weight.    -   Increase your physical activity.    -   Increase your daily intake of fruits and vegetables.    -   Talk to your health professional about the benefits and risks of        aspirin therapy.        Additional Risk Assessment    -   Your health professional may suggest additional steps to assess        your risk, which might include specialized tests, a genetic        evaluation, or genetic testing.        <new page>        Name: Two, Case DOB: Jul. 6, 1935 Prepared On: Jan. 13, 2006        The impact of your family history on Stroke risk is: WEAK

Although your family history risk is weak, there are other factors thatcan affect your risk of disease.

The following can help reduce your overall risk:

Screening Tests

-   -   Continue to check your blood pressure.    -   Continue cholesterol testing.        Lifestyle Changes    -   Increase your physical activity    -   Increase your daily intake of fruits and vegetables.        <new page>        Name: Two, Case DOB: Jul. 6, 1935 Prepared On: Jan. 13, 2006        The impact of your family history on Diabetes risk is: WEAK

Although your family history risk is weak, there are other factors thatcan affect your risk of disease.

The following can help reduce your overall risk:

Screening Tests

-   -   Based on your responses, you are following the recommendations        for available screening tests for this disease. However, talk        with your health professional about screening tests that may be        appropriate in the future, and when and how often you should be        screened.        Lifestyle Changes    -   Increase your physical activity.        <new page>        Name: Two, Case DOB: Jul. 6, 1935 Prepared On: Jan. 13, 2006        The impact of your family history on Colon Cancer risk is:        MODERATE

Why your family history is a risk factor:

-   -   A family member with colon cancer.        The following can help reduce your overall risk:        Screening Tests    -   Schedule a colon cancer screening test today.        Lifestyle Changes    -   Maintain a healthy weight.    -   Increase your physical activity.    -   Increase your daily intake of fruits and vegetables.    -   Experts recommend no more than 1 drink per day for women.    -   Talk to your health professional about the benefits and risks of        aspirin therapy.        <new page>        Name: Two, Case DOB: Jul. 6, 1935 Prepared On: Jan. 13, 2006        The impact of your family history on Breast Cancer risk is:        MODERATE

Why your family history is a risk factor:

-   -   A family member with breast cancer at a later age.        The following can help reduce your overall risk:        Screening Tests    -   Continue breast cancer screening.        Lifestyle Changes    -   Maintain a healthy weight.    -   Increase your physical activity.    -   Increase your daily intake of fruits and vegetables.    -   Experts recommend no more than 1 drink per day for women.        Additional Risk Assessment    -   While your family history is a moderate risk factor for breast        cancer, other factors can influence your risk. These include the        age when you began menstruation, number of full-term pregnancies        before age 30, or use of hormone replacement therapy. Talk to        your health professional about these factors and how they might        influence your risk.        <new page>        Name: Two, Case DOB: Jul. 6, 1935 Prepared On: Jan. 13, 2006        The impact of your family history on Ovarian Cancer risk is:        WEAK

Although your family history risk is weak, there are other factors thatcan affect your risk of disease.

The following can help reduce your overall risk:

Screening Tests

-   -   No recommendations        Lifestyle Changes    -   No recommendations        <new page>        Name: Two, Case DOB: Jul. 6, 1935 Prepared On: Jan. 13, 2006        Screening tests that are important because of your family health        history:

Cholesterol Testing

Continue cholesterol testing. Talk to your health professional aboutyour family history, how it affects your risk of Coronary Heart Disease,and your options for screening and prevention. Your cholesterol testingshould include a measure of your total cholesterol, low densitylipoprotein (the “bad” cholesterol), high density lipoprotein (the“good” cholesterol), and triglyceride. If your cholesterol levels arehigh or abnormal, changing your lifestyle and/or taking medication canreduce your risk of coronary heart disease and stroke. Due to yourincreased risk, you may need to test for other cardiovascular. Ask yourhealth professional how often you should test your cholesterol. Thiswill depend on your cholesterol levels, other risk factors, and if youalready are being treated for cholesterol problems.

Blood Glucose Testing

Continue testing your blood sugar. You may benefit from testing becauseof your family history. Talk to your health professional about yourblood sugar and how it affects your risk of Coronary Heart Disease.Elevated blood sugar is a sign of diabetes, and it can increase yourrisk of coronary heart disease and stroke. If you have elevated bloodsugar, you can lower it by changing your lifestyle and/or takingmedication. In addition, your health professional may closely monitorand manage other cardiovascular like blood pressure and cholesterol.These steps may reduce your risk of coronary heart disease and stroke.Ask your health professional about scheduling a blood sugar test.

Blood Pressure Testing

Continue to check your blood pressure. Talk to your health professionalabout your family history, how it affects your risk of Coronary HeartDisease, and your options for screening and prevention. If your bloodpressure is high, changing your lifestyle and/or taking medication canlower your blood pressure and reduce your risk of coronary heart diseaseand stroke. Ask your health professional how often you should check yourblood pressure. This will depend on your blood pressure levels, otherhealth problems, and if you already are being treated for high bloodpressure.

Breast Cancer Testing

Continue breast cancer screening. Talk to your health professional aboutyour family history, how it affects your breast cancer risk, and youroptions for screening and prevention. Mammograms and clinical breastexams are screening tests that can help detect breast cancer early, whenit is most treatable. Due to your family history, other screening testsor prevention options may be helpful. Talk to your health professionalabout your risk of breast cancer, the best tests for you, and how oftenyou should be screened.

Colon Cancer Testing

Schedule a colon cancer colon cancer today. Talk to your healthprofessional about your family history, how it affects your colon cancerrisk, and your options for screening and prevention. Colon cancerscreening can help find colon cancer early, when it is most treatable.It also can detect polyp (small growths), which can be removed toprevent colon cancer. Colon cancer screening tests include: a home stooltest kit, sigmoidoscopy, double-contrast barium enema, and/orcolonoscopy. Usually, a home stool test is done every year,sigmoidoscopy at least every 5 years, double-contrast barium enema atleast every 5 years, and colonoscopy at least every 10 years. Thesetests can be done alone or in combination and are usually recommendedfor people aged 50 and older. Talk to your health professional aboutyour risk of colon cancer, the tests that are best for you, and howoften you should be screened.

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Name: Two, Case DOB: Jul. 6, 1935 Prepared On: Jan. 13, 2006

Lifestyle changes that are important because of your family healthhistory:

Physical Activity

Increase your physical activity. This may reduce your risk of CoronaryHeart Disease, Colon Cancer and Breast Cancer and improve your overallhealth. The ideal level of activity is at least 30 minutes of moderateactivity on five or more days a week, or at least 20 minutes of vigorousactivity on three or more days a week. If you need help getting morephysical activity, ask your health professional for ideas or a referral.

Weight

Your weight is appropriate for your height. Maintaining a healthy weightmay reduce your risk of Coronary Heart Disease, Colon Cancer and BreastCancer and improve your overall health. Based on your height, your idealweight ranges from 107 to 145 pounds.

Fruits and Vegetables

Increase your daily intake of fruits and vegetables. This may reduceyour risk of Coronary Heart Disease, Colon Cancer and Breast Cancer andimprove your overall health. Experts recommend eating 5 to 9 servings offruits and vegetables a day. Try to eat a variety of different coloredfruits and vegetables daily, especially darker green and yellow/orangechoices. Fresh, frozen, chilled, canned, dried, and 100% fruit andvegetables juice all count. But limit or avoid fruits or vegetables thatare high in added fat, sugar or salt. If you need help adding morefruits and vegetables to your diet, ask your health professional forideas or a referral.

Aspirin

Taking aspirin on a regular basis may reduce your risk of Coronary HeartDisease and Colon Cancer. Talk to your health professional about whetheraspirin therapy is right for you. Aspirin use may reduce your risk ofcertain diseases, including coronary heart disease, stroke, and coloncancer. However, aspirin use may have risks such as bruising more easilyand bleeding from the gastrointestinal tract. If you are allergic toaspirin, you should not take it. Talk to your health professional aboutthe possible benefits and risks of aspirin therapy. If you are takingother medications, ask if there are any harmful interactions withaspirin.

Alcohol

Limit your alcohol intake to no more than one drink a day. This mayreduce your risk of getting Colon Cancer and Breast Cancer. Don't drinkany alcohol if you have a history of alcoholism or are takingmedications that may interact with alcohol. Don't drink while you arepregnant, or if you are trying to become pregnant, because alcohol mayharm the development of your fetus. Talk to your health professional ifyou have questions about alcohol and how it affects your health, or ifyou have trouble limiting your alcohol intake.

Example 39 Exemplary Disease Prevention Plan

In any of the examples herein, an electronic or paper-based report basedon familial disease risk, and/or personal health information, and/orpersonal behavior information and/or the like can be a diseaseprevention plan. Such reports can include familial disease risk,familial risk clarifiers, and recommendations for screening tests,behavioral changes, and the like. Further, such reports can includepedigree analysis (e.g., family tree pictures and the like). Althoughparticular disease prevention plans are shown in some examples, otherdisease prevention plans and formats can be used.

Example 40 Exemplary Advantages and Applications of Technologies

While family history is a risk factor for most chronic diseases ofpublic health significance, it is underutilized in the practice ofpreventive medicine and public health for assessing disease risk andinfluencing early detection and prevention strategies. Geneticists havelong recognized the value of family history for discovering inheriteddisorders, usually the result of single gene mutations. Although singlegene disorders are typically associated with a large magnitude of risk,they account for only a small proportion of individuals with a geneticrisk for common, chronic diseases. Most of the genetic susceptibility tothese disorders is the result of multiple genes interacting withmultiple environmental factors. Family history therefore, is more thangenetics; it reflects the consequences of inherited geneticsusceptibilities, shared environment, shared cultures and commonbehaviors. All of these factors are important when estimating diseaserisk.

It is well known that people who have close relatives with certaindiseases such as heart disease, diabetes, and cancers, are more likelyto develop those diseases themselves. Studies suggest that having afirst-degree relative with a chronic disease can at least double aperson's risk of developing the same or a related disease. This riskgenerally increases with an increasing number of affected relatives,especially if their disease was diagnosed at an early age. Physiciansusually collect information about a patient's family history, but oftendo not discuss, revisit or update it over time. Thus, they may missopportunities to offer specific prevention recommendations for diseasesthat run in the family. Family medical history represents a “genomictool” that can capture the interactions of genetic susceptibility,shared environment, and common behaviors in relation to disease risk.Determining risk of diseases for individuals based on family medicalhistory can lead to lifestyle changes and preventive treatment,potentially saving lives and the need for intensive and expensive caretreatments.

Healthcare information and resources are widely available to medicalproviders and patients via electronic and printed resources.Unfortunately, many informational sources provide only broad,generalized information. Preventive medicine should provide patientswith feedback regarding individualized risk analysis and diseaseprevention information that is applicable to their own personalizedhealth history, while also being simple and easy to use and interpret.Currently there is no standardized way to collect or interpret familyhealth history data. Existing tools are usually paper-based,time-consuming for the patient, and difficult to interpret for thehealth care professional. Knowledge of increased risk for chronicdiseases due to family history can influence the clinical management andprevention of a disease. Prevention strategies can include targetinglifestyle changes such as diet, exercise, and smoking cessation;screening at earlier ages, more frequently, and with more intensivemethods than might be used for average risk individuals; use ofchemoprevention such as aspirin; and referral to a specialist forassessment of genetic risk factors. Systems and methods for collectinginformation about a patient's family health history, determining riskanalysis of disease based on personal and family health history, andproviding a personalized disease prevention plan can influence theclinical management and prevention of disease.

Example 41 More Exemplary Advantages and Applications of Technologies

Familial risk assessment and disease plan prevention technologies canplay a major role in preventive medicine by allowing primary careproviders the ability to review their patients' family histories andmake recommendations for early detection or intervention strategies andcounseling on lifestyles. Similarly, patients have the ability tomaintain and update their family history records at home and can discussthe implications with their providers during visits. The technology canbe used on a standalone computer system or via networked computers vialocal networks and/or the Internet. Similarly, the technology can beintegrated within electronic medical records or information systemsallowing for increased data access and interchange. Such applicationsand technology also lend themselves to personalized medicine, home-basedhealth management, as well as increasing the opportunities forevidence-based medicine to be integrated into medical practice on adaily basis.

Example 42 Exemplary Computer System for Conducting Analysis

FIG. 59 and the following discussion provide a brief, generaldescription of a suitable computing environment for the software (forexample, computer programs) described above. The methods described abovecan be implemented in computer-executable instructions (for example,organized in program modules). The program modules can include theroutines, programs, objects, components, and data structures thatperform the tasks and implement the data types for implementing thetechniques described above.

While FIG. 59 shows a typical configuration of a desktop computer, thetechnologies may be implemented in other computer system configurations,including multiprocessor systems, microprocessor-based or programmableconsumer electronics, minicomputers, mainframe computers, and the like.The technologies may also be used in distributed computing environmentswhere tasks are performed in parallel by processing devices to enhanceperformance. For example, tasks can be performed simultaneously onmultiple computers, multiple processors in a single computer, or both.In a distributed computing environment, program modules may be locatedin both local and remote memory storage devices. For example, code canbe stored on a local machine/server for access through the Internet,whereby data from assays can be uploaded and processed by the localmachine/server and the results provided for printing and/or downloading.

The computer system shown in FIG. 59 is suitable for implementing thetechnologies described herein and includes a computer 5920, with aprocessing unit 5921, a system memory 5922, and a system bus 5923 thatinterconnects various system components, including the system memory tothe processing unit 5921. The system bus may comprise any of severaltypes of bus structures including a memory bus or memory controller, aperipheral bus, and a local bus using a bus architecture. The systemmemory includes read only memory (ROM) 5924 and random access memory(RAM) 5925. A nonvolatile system (for example, BIOS) can be stored inROM 5924 and contains the basic routines for transferring informationbetween elements within the personal computer 5920, such as duringstart-up. The personal computer 5920 can further include a hard diskdrive 5927, a magnetic disk drive 5928, for example, to read from orwrite to a removable disk 5929, and an optical disk drive 5930, forexample, for reading a CD-ROM disk 5931 or to read from or write toother optical media. The hard disk drive 5927, magnetic disk drive 5928,and optical disk 5930 are connected to the system bus 5923 by a harddisk drive interface 5932, a magnetic disk drive interface 5933, and anoptical drive interface 5934, respectively. The drives and theirassociated computer-readable media provide nonvolatile storage of data,data structures, computer-executable instructions (including programcode such as dynamic link libraries and executable files), and the likefor the personal computer 5920. Although the description ofcomputer-readable media above refers to a hard disk, a removablemagnetic disk and a CD, it can also include other types of media thatare readable by a computer, such as magnetic cassettes, flash memorycards, DVDs, and the like.

A number of program modules may be stored in the drives and RAM 5925,including an operating system 5935, one or more application programs5936, other program modules 5937, and program data 5938. A user mayenter commands and information into the personal computer 5920 through akeyboard 5940 and pointing device, such as a mouse 5942. Other inputdevices (not shown) may include a microphone, joystick, game pad,satellite dish, scanner, or the like. These and other input devices areoften connected to the processing unit 5921 through a serial portinterface 5946 that is coupled to the system bus, but may be connectedby other interfaces, such as a parallel port, game port, or a universalserial bus (USB). A monitor 5947 or other type of display device is alsoconnected to the system bus 5923 via an interface, such as a displaycontroller or video adapter 5948. In addition to the monitor, personalcomputers typically include other peripheral output devices (not shown),such as speakers and printers.

The above computer system is provided merely as an example. Thetechnologies can be implemented in a wide variety of otherconfigurations. Further, a wide variety of approaches for collecting andanalyzing family history data and personal health data are possible. Forexample, the data can be collected and analyzed, and the resultspresented on different computer systems as appropriate. In addition,various software aspects can be implemented in hardware, and vice versa.Further, paper-based approaches to the technologies are possible,including, for example, purely paper-based approaches that utilizeinstructions for interpretation of algorithms, as well as partiallypaper-based approaches that utilize scanning technologies and dataanalysis software.

Example 43 Exemplary Computer-Implemented Methods

Any of the computer-implemented methods described herein can beperformed by software executed by software in an automated system (forexample, a computer system). Fully-automatic (for example, without humanintervention) or semi-automatic operation (for example, computerprocessing assisted by human intervention) can be supported. Userintervention may be desired in some cases, such as to adjust parametersor consider results.

Such software can be stored on one or more computer-readable mediacomprising computer-executable instructions for performing the describedactions.

For the sake of presentation, terms such as “determine,” “generate,” and“provide” are used to describe computer operations in a computingenvironment. These terms can be high-level abstractions for operationsperformed by a computer, and need not be acts performed by a humanbeing. The actual computer operations corresponding to these terms canvary depending on implementation.

Alternatives

Having illustrated and described the principles of the invention inexemplary embodiments, it should be apparent to those skilled in the artthat the described examples are illustrative embodiments and can bemodified in arrangement and detail without departing from suchprinciples. Techniques from any of the examples can be incorporated intoone or more of any of the other examples (e.g., including the examplesdescribed in the claims).

In view of the many possible embodiments to which the principles of theinvention may be applied, it should be understood that the illustrativeembodiments are intended to teach these principles and are not intendedto be a limitation on the scope of the invention. We therefore claim asour invention all that comes within the scope and spirit of thefollowing claims and their equivalents.

We claim:
 1. A computer-implemented method of providing a personalizeddisease prevention plan for a subject, the method comprising: receivingfamily health history information of the subject; receiving personalhealth behavior information of the subject; based at least on the familyhealth history information of the subject, determining by a computersystem, one or more metrics of familial risk for one or more diseasesfor the subject, wherein determining the one or more metrics of familialrisk comprises consulting one or more familial risk matrices, whereinthe consulting comprises determining whether an intersection of twofamilial disease history scenarios in the family health historyinformation of the subject is present in the one or more familial riskmatrices, and the intersection indicates a risk assessment category forthe intersection of two familial disease history scenarios, and the oneor more metrics of familial risk are determined as the risk assessmentcategory; based at least on the one or more metrics of familial risk forthe one or more diseases for the subject and the personal healthbehavior information of the subject, generating one or more personalizeddisease prevention recommendations for the subject; and presenting theone or more personalized disease prevention recommendations for thesubject in the personalized disease prevention plan for the subject. 2.The method of claim 1 wherein familial risk is determined as aparticular risk assessment category out of three or more risk assessmentcategories indicative of a risk level.
 3. The method of claim 2 whereinthe risk assessment category for at least one of the diseases isdisplayed in the personalized disease prevention plan for the subject.4. The method of claim 1 further comprising: receiving personal healthhistory information of the subject; wherein the one or more personalizeddisease prevention recommendations for the subject are based at least onthe personal health history information of the subject.
 5. The method ofclaim 1 wherein the personal health behavior information of the subjectcomprises information indicating whether the subject has had one or morescreening tests performed; and the one or more personalized diseaseprevention recommendations of the subject are based at least on theinformation indicating whether the subject has had one or more screeningtests performed.
 6. The method of claim 5 wherein the informationindicating whether the subject has had one or more screening testsperformed indicates which of the one or more screening tests the subjecthas had performed.
 7. The method of claim 5 wherein the one or morepersonalized disease prevention recommendations include a textualreference to recommended screening test practices of the subject basedat least on the one or more metrics of familial risk for the one or morediseases.
 8. The method of claim 5 wherein the one or more personalizeddisease prevention recommendations include a textual reference topresent screening test practices of the subject based at least on theone or more metrics of familial risk for the one or more diseases. 9.The method of claim 5 wherein: the personal health behavior informationof the subject comprises information indicating health-related personalpractices of the subject; and the one or more personalized diseaseprevention recommendations of the subject are based at least on theinformation indicating the health-related personal practices of thesubject.
 10. The method of claim 9 wherein: the health-related personalpractices of the subject are one or more selected from the groupconsisting of: tobacco use by the subject; body mass index of thesubject; level of physical activity of the subject; diet of the subject;alcohol use by the subject; and aspirin use by the subject.
 11. Themethod of claim 1 wherein the personalized disease prevention plancomprises a recommendation to modify health-related personal practicesof the subject based at least on the one or more metrics of familialrisk for one or more diseases.
 12. The method of claim 1 wherein thegenerating is based at least on identifying a risk scenario ininformation comprising the one or more metrics of familial risk for theone or more diseases for the subject and the personal health behaviorinformation of the subject.
 13. The method of claim 12 wherein theidentifying identifies a risk scenario based further at least oninformation indicating whether the subject has had one or more screeningtests performed.
 14. The method of claim 1 wherein the personalizeddisease prevention plan comprises a recommendation to continuehealth-related personal practices of the subject based at least on theone or more metrics of familial risk for one or more diseases.
 15. Amethod for determining familial risk in a subject of developing adisease of interest, the method comprising: obtaining, from the subject,family health history information comprising: (i) whether any first orsecond degree relatives have developed the disease of interest; (ii)whether any first or second degree relatives have developed an indicatordisease, other than the disease of interest, associated with anincreased risk of developing the disease of interest; obtaining for anyfirst or second degree relative that developed the disease of interestor indicator disease information comprising: (i) an age of onset atwhich the disease of interest or indicator disease developed; (ii) anumber of first degree relatives of the subject that developed thedisease of interest or indicator disease; (iii) a number of seconddegree relatives of the subject that developed the disease of interestor indicator disease; and assigning, by a computer system, familial riskin the subject of developing the disease of interest based on: (i)whether any relative that developed the disease of interest or indicatordisease was a first or second degree relative; (ii) the age of onset ofthe disease of interest or indicator disease in the relative; (iii) thenumber of first degree relatives that developed the disease of interestor indicator disease; and (iv) the number of second degree relativesthat developed the disease of interest or indicator disease; whereinassigning familial risk in the subject of developing the disease ofinterest comprises consulting one or more familial risk matrices,wherein the consulting comprises determining whether an intersection oftwo familial disease history scenarios in the family health historyinformation is present in the one or more familial risk matrices, andthe intersection indicates a risk assessment category for theintersection of two familial disease history scenarios, and the familialrisk is determined as the risk assessment category.
 16. The method ofclaim 15, wherein consulting one or more familial risk matricescomprises determining an intersection of two predetermined familialdisease history scenarios within a familial risk matrix.
 17. The methodof claim 16, wherein the intersection of two predetermined familialdisease history scenarios results in a categorization of familial riskas high, moderate, or low.
 18. The method of claim 15, wherein the ageof onset is an age range of onset.
 19. The method of claim 15, whereinthe disease of interest is a lineage associated disease in which lineageof the first or second degree relative is associated with differentdegrees of familial risk of developing the disease of interest, andassigning familial risk of developing the disease of interest comprisesfurther assigning familial risk based on lineage of the first or seconddegree relative.
 20. The method of claim 15, wherein the disease ofinterest is a gender associated disease in which gender of the first orsecond degree relative is associated with different degrees of familialrisk of developing the disease of interest, and assigning familial riskof developing the disease of interest comprises further assigningfamilial risk based on gender of the first or second degree relative.21. The method of claim 15, wherein assigning familial risk comprisescategorizing risk as strong, moderate or weak.
 22. The method of claim15, wherein the disease of interest is breast cancer and the indicatordisease is ovarian cancer.
 23. The method of claim 20, wherein thedisease of interest is breast cancer, and assigning risk based on genderof the first or second degree relative comprises assigning risk based ongender of the first or second degree relative with breast cancer. 24.The method of claim 15, wherein assigning familial risk based on the ageof onset comprises assigning a higher risk responsive to determiningthat: breast cancer or colon cancer age of onset was less than 50 yearsin men or women; or stroke age of onset was less than 60 years in men orwomen; or coronary heart disease age of onset was less than 55 years inmen or less than 65 years in women; or diabetes age of onset was 20years or greater in men or women.
 25. The method of claim 15, whereinthe disease of interest is ovarian cancer and the indicator disease isbreast cancer, colon cancer, or both breast and colon cancer.
 26. Themethod of claim 15, wherein the disease of interest is colon cancer andthe indicator disease is ovarian cancer.
 27. The method of claim 15,wherein the disease of interest is coronary heart disease, and theindicator disease is diabetes, stroke, or both diabetes and stroke. 28.The method of claim 15, wherein the disease of interest is stroke andthe indicator disease is coronary heart disease, diabetes, or bothcoronary heart disease and diabetes.
 29. The method of claim 15, whereinthe disease of interest is adult-onset diabetes.
 30. The method of claim15, further comprising determining a disease prevention plan based onthe familial risk assigned and personal health history information. 31.The method of claim 15, wherein the method is an interactive computerimplemented method for determining the familial risk of the subjectdeveloping the disease.
 32. A computer-implemented method fordetermining familial risk in a subject of developing one or morediseases of interest, comprising: receiving family member health historyinformation; in a computer system, determining familial risk in thesubject of developing one or more diseases of interest based on: (i)whether any family member developed one or more diseases of interest orindicator diseases and was a first or second degree relative; (ii) anage of onset of the one or more diseases of interest or indicatordiseases; (iii) a number of first degree relatives that developed one ormore diseases of interest or indicator diseases; (iv) a number of seconddegree relatives that developed one or more diseases of interest orindicator diseases; and providing results indicating familial risk inthe subject of developing one or more diseases of interest; whereindetermining familial risk of developing one or more diseases comprisesconsulting one or more familial risk matrices, wherein the consultingcomprises determining whether an intersection of two predeterminedfamilial disease history scenarios in the family member health historyinformation of the subject is present in the one or more familial riskmatrices, and the intersection indicates a risk assessment category forthe intersection of two predetermined familial disease historyscenarios, and the familial risk is determined based on the riskassessment category.
 33. The computer-implement method of claim 32,wherein consulting familial risk matrices comprises determining anintersection of two predetermined familial disease history scenarioswithin a familial risk matrix.
 34. The computer-implemented method ofclaim 33, wherein the intersection of two predetermined familial diseasehistory scenarios results in a categorization of familial risk as high,moderate, or low.
 35. The computer-implemented method of claim 32,wherein determining familial risk of developing one or more diseasescomprises categorizing risk as high, moderate, or low.
 36. Thecomputer-implemented method of claim 32, wherein: a given disease ofinterest of the one or more diseases of interest is a gender associateddisease in which gender of the first of second degree relative isassociated with different degrees of familial risk of developing thegiven disease of interest, and determining familial risk of developingthe given disease of interest comprises further determining familialrisk based on gender of the first or second degree relative.
 37. Thecomputer-implement method of claim 32, wherein: a given disease ofinterest of the one or more diseases of interest is breast cancer,ovarian cancer, colon cancer, stroke, coronary heart disease, ordiabetes type 2 and a given indicator disease of the one or moreindicator diseases is breast cancer, ovarian cancer, colon cancer,stroke, coronary heart disease, diabetes type 2, or any combinationthereof.
 38. The computer-implemented method of claim 37, whereindetermining familial risk based on the age of the onset comprisesassigning a higher risk responsive to determining that: breast cancer orcolon cancer age of onset was less than 50 years in men or women; orstroke age of onset was less than 60 years in men or women; or coronaryheart disease age of onset was less than 55 years in men or less than 65years in women; or diabetes age of onset was 20 years or greater in menor women.
 39. The computer-implemented method of claim 32, furthercomprising receiving personal health history information.
 40. Thecomputer-implemented method of claim 35, further comprising providingresults indicating recommendations to lower risks of developing one ormore diseases of interest.
 41. The computer-implemented method of claim40, wherein providing results indicating recommendations to lower risksof developing one or more diseases of interest comprises: providingstandard public health prevention recommendations for low familial risk;providing personalized prevention recommendations for moderate familialrisk; and providing personalized prevention recommendations and referralfor genetic evaluation for high familial risk.
 42. Thecomputer-implemented method of claim 40, wherein providing resultsindicating recommendations to lower risks of developing one or morediseases of interest comprises: assessing familial risk determined forone or more diseases of interest; analyzing personal health historyinformation; and providing personalized prevention recommendations basedon the familial risk determined for one or more diseases of interest andpersonal health history information.
 43. The computer-implemented methodof claim 32, further comprising providing results indicating referralfor genetic evaluation.
 44. A system for determining a personalizeddisease prevention plan for a subject, comprising: a computer systemcomprising a processing unit and system memory; a health historycollector for obtaining from the subject health information comprising:(i) a number of first or second degree relatives that have developed adisease of interest; (ii) a number of first or second degree relativesthat have developed an indicator disease, other than the disease ofinterest, associated with an increased risk of developing the disease ofinterest; (iii) an age of onset at which the disease of interest orindicator disease developed for any first or second degree relative thatdeveloped the disease of interest or indicator disease; a familial riskassessor for assigning familial risk in the subject of developing thedisease of interest based on: (i) whether any relative that developedthe disease of interest or indicator disease was a first or seconddegree relative; (ii) the age of onset of the disease of interest orindicator disease in the relative; (iii) the number of first degreerelatives that developed the disease of interest or indicator disease;and (iv) the number of second degree relatives that developed thedisease of interest or indicator disease; and a personalized diseaseprevention plan presenter for presenting the personalized diseaseprevention plan based on the familial risk in the subject; wherein thefamilial risk assessor is configured to consult one or more familialrisk matrices, wherein the familial risk assessor is further configuredto determine whether an intersection of two familial disease historyscenarios in the health information of the subject is present in the oneor more familial risk matrices, and the intersection indicates a riskassessment category for the intersection of two familial disease historyscenarios, and the familial risk is determined as the risk assessmentcategory.
 45. The system of claim 44, wherein health information furthercomprises personal health history information.
 46. The system of claim45, wherein assigning familial risk in the subject of developing thedisease of interest is further based on the personal health historyinformation of the subject.
 47. The system of claim 44, wherein thepersonalized disease prevention plan comprises recommendations to lowerrisks of developing one or more diseases of interest.
 48. The system ofclaim 44, wherein the personalized disease prevention plan comprises apedigree display.